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

1–12 of 80 variants

2 papers

NM_031892.3

p.R101C

c.301C>T

2 papers

NM_031892.3

p.F322Y

c.965T>A

2 papers

NM_031892.3

p.H524Y

c.1570C>T

2 papers

NM_031892.3

p.R617H

c.1850G>A

1 paper

NM_031892.3

p.M1V

c.1A>G

1 paper

NM_031892.3

p.V2Splc

c.4+12C>G

1 paper

NM_031892.3

p.F8delFs

c.23delA

1 paper

NM_031892.3

p.T19M

c.56C>T

1 paper

NM_031892.3

p.F48L

c.142T>C

1 paper

NM_031892.3

p.P49delFs

c.147delA

1 paper

NM_031892.3

p.F52Y

c.155T>A

1 paper

NM_031892.3

p.M60I

c.180G>T