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_001170720.3

p.H520R

c.1559A>G

Surrounding Variants

1 paper

NM_014567.5

p.Q670_G671Splc

c.2010+1G>A

1 paper

NM_014567.5

p.G659fs

c.1975_1976fs

1 paper

NM_014567.5

p.G659delFs

c.1976delC

1 paper

NM_014567.5

p.Q652*

c.1954C>T

1 paper

NM_014567.5

p.N624H

c.1870A>C

1 paper

NM_001170721.3

p.R397Q

c.1190G>A

1 paper

NM_014567.5

p.R584Q

c.1751G>A

2 papers

NM_014567.5

p.R578L

c.1733G>T

2 papers

NM_014567.5

p.A571T

c.1711G>A

1 paper

NM_014567.5

p.H558R

c.1673A>G

2 papers

NM_014567.5

p.Q544*

c.1630C>T

1 paper

NM_014567.5

p.R535C

c.1603C>T