Varaico: Literature-Extracted Genetic Variants

BCAR1

214 papers

RefSeq Summary

The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many s...

Pfam Domains

SH3_1aa 9–57UCSCSH3 domain

Serine_richaa 454–608UCSCSerine rich protein interaction domain

CAS_Caa 654–864UCSCCrk-Associated Substrate C-terminal domain

Gene Aliases

HGNC Name

BCAR1 scaffold protein, Cas family member

HGNC Alias Symbols

P130Cas; Crkas; CAS; CASS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014567.5

p.L478L

c.1432C>T

Surrounding Variants

1 paper

NM_014567.5

p.H476delFs

c.1428delG

1 paper

NM_014567.5

p.A486A

c.1458G>T

1 paper

NM_014567.5

p.Q468K

c.1402C>A

1 paper

NM_014567.5

p.A462G

c.1385C>G

1 paper

NM_014567.5

p.E461_A462del1

c.1382_1384delCCT

1 paper

NM_014567.5

p.S494_E495delFs

c.1481_1485del5

1 paper

NM_014567.5

p.A459V

c.1376C>T

1 paper

NM_014567.5

p.A459S

c.1375G>T

1 paper

NM_014567.5

p.V458D

c.1373T>A

1 paper

NM_014567.5

p.V501fs

c.1501_1502fs

1 paper

NM_014567.5

p.P453_L454ins4

c.1357_1361ins12

1 paper

NM_014567.5

p.Q505K

c.1513C>A