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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43543: Variant p.Arg238Ser

DNA repair protein XRCC2
Gene: XRCC2
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Variant information Variant position: help 238
Type of variant: help LB/B
Residue change: help From Arginine (R) to Serine (S) at position 238 (R238S, p.Arg238Ser).
Physico-chemical properties: help Change from large size and basic (R) to small size and polar (S)
BLOSUM score: help -1
Variant description: help Does not affect function in double-strand break repair via homologous recombination as shown in rescue assays of XRCC2-deficient cells.
Other resources: help


Sequence information Variant position: help 238
Protein sequence length: help 280
Location on the sequence: help DVDIDYRPYLCKAWQQLVKH R MFFSKQDDSQSSNQFSLVSR
Residue conservation: help 
Human                         DVDIDYRPYLCKAWQQLVKHRMFFSKQDDSQSSNQFSLVSR

Mouse                         DGDMGYRAYLCKAWQRVVKHRVIFSRDDEAKSS-RFSLVSR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 280 DNA repair protein XRCC2
Beta strand 237 – 243



Literature citations
Rare variants in XRCC2 as breast cancer susceptibility alleles.
Hilbers F.S.; Wijnen J.T.; Hoogerbrugge N.; Oosterwijk J.C.; Collee M.J.; Peterlongo P.; Radice P.; Manoukian S.; Feroce I.; Capra F.; Couch F.J.; Wang X.; Guidugli L.; Offit K.; Shah S.; Campbell I.G.; Thompson E.R.; James P.A.; Trainer A.H.; Gracia J.; Benitez J.; van Asperen C.J.; Devilee P.;
J. Med. Genet. 49:618-620(2012)
Cited for: VARIANTS ARG-47; GLN-75; VAL-95; ALA-118; TYR-120; PRO-133; GLN-164; ALA-170; CYS-188; MET-194; LEU-199; GLY-207; VAL-220; SER-238; GLU-248; CYS-258 AND VAL-270; Functional analysis of missense variants in the putative breast cancer susceptibility gene XRCC2.
Hilbers F.S.; Luijsterburg M.S.; Wiegant W.W.; Meijers C.M.; Voelker-Albert M.; Boonen R.A.; van Asperen C.J.; Devilee P.; van Attikum H.;
Hum. Mutat. 37:914-925(2016)
Cited for: VARIANTS SER-16; ARG-47; ILE-61; GLN-75; TRP-91; VAL-95; ALA-118; TYR-120; PRO-133; GLN-164; ALA-170; CYS-188; HIS-188; MET-194; LEU-199; GLY-207; VAL-220; CYS-231; SER-238; GLU-248; CYS-258 AND VAL-270; FUNCTION; CHARACTERIZATION OF VARIANTS SER-16; ARG-47; ILE-61; GLN-75; TRP-91; VAL-95; ALA-118; TYR-120; PRO-133; GLN-164; ALA-170; CYS-188; HIS-188; MET-194; LEU-199; GLY-207; VAL-220; CYS-231; SER-238; GLU-248; CYS-258 AND VAL-270;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.