Varaico: Literature-Extracted Genetic Variants

SH3KBP1

83 papers

RefSeq Summary

This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-prote...

Pfam Domains

SH3_9aa 6–54UCSCVariant SH3 domain

SH3_9aa 105–153UCSCVariant SH3 domain

SH3_9aa 274–324UCSCVariant SH3 domain

SH3_9aa 299–349UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 domain containing kinase binding protein 1

HGNC Alias Symbol

CIN85

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031892.3

p.P111A

c.331C>G

Surrounding Variants

1 paper

NM_031892.3

p.P111L

c.332C>T

1 paper

NM_031892.3

p.D114G

c.341A>G

1 paper

NM_031892.3

p.Q104L

c.311A>T

1 paper

NM_031892.3

p.R101H

c.302G>A

2 papers

NM_031892.3

p.R101C

c.301C>T