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.K598R

c.1793A>G

Surrounding Variants

1 paper

NM_031892.3

p.G592S

c.1774G>A

1 paper

NM_031892.3

p.S587A

c.1759T>G

1 paper

NM_031892.3

p.R613K

c.1838G>A

2 papers

NM_031892.3

p.R617H

c.1850G>A

1 paper

NM_031892.3

p.L574fs

c.1720_1721fs

1 paper

NM_031892.3

p.L574insFs

c.1721_1722insC

1 paper

NM_031892.3

p.M626V

c.1876A>G

1 paper

NM_031892.3

p.G561S

c.1681G>A

1 paper

NM_031892.3

p.T555T

c.1665C>T

1 paper

NM_031892.3

p.T555I

c.1664C>T

1 paper

NM_031892.3

p.Q541E

c.1621C>G

1 paper

NM_031892.3

p.V537insFs

c.1610_1611insC