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

1–12 of 182 variants

4 papers

NM_014567.5

p.S407T

c.1220G>C

3 papers

NM_014567.5

p.L4_N5Splc

c.12+2T>C

3 papers

NM_014567.5

p.P94S

c.280C>T

3 papers

NM_014567.5

p.Y128F

c.383A>T

2 papers

NM_014567.5

p.L4L

c.12G>C

2 papers

NM_014567.5

p.L33R

c.98T>G

2 papers

NM_014567.5

p.G132D

c.395G>A

2 papers

NM_014567.5

p.P160P

c.480G>A

2 papers

NM_014567.5

p.K295M

c.884A>T

2 papers

NM_014567.5

p.Q544*

c.1630C>T

2 papers

NM_014567.5

p.A571T

c.1711G>A

2 papers

NM_014567.5

p.R578L

c.1733G>T