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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96PY6: Variant p.Asp1180Asn

Serine/threonine-protein kinase Nek1
Gene: NEK1
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Variant information Variant position: help 1180
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Asparagine (N) at position 1180 (D1180N, p.Asp1180Asn).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 1180
Protein sequence length: help 1258
Location on the sequence: help LNEEWHSDNSDGEIASECEC D SVFNHLEELRLHLEQEMGFE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1258 Serine/threonine-protein kinase Nek1
Alternative sequence 528 – 1258 Missing. In isoform 5.



Literature citations
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PHE-10; LYS-25; VAL-76; PRO-294; GLY-355; VAL-463; THR-598; GLY-724; ASN-745; GLU-883 AND ASN-1180;
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.