Varaico: Literature-Extracted Genetic Variants

SORBS3

55 papers

RefSeq Summary

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organi...

Pfam Domains

Sorbaa 119–160UCSCSorbin homologous domain

SH3_9aa 388–435UCSCVariant SH3 domain

SH3_1aa 460–507UCSCSH3 domain

SH3_9aa 619–669UCSCVariant SH3 domain

Gene Aliases

HGNC Name

sorbin and SH3 domain containing 3

HGNC Alias Symbols

SCAM-1; SH3D4; vinexin

Papers

RefSeq ID

Protein change

DNA change

1–12 of 53 variants

3 papers

NM_005775.5

p.T573A

c.1717A>G

2 papers

NM_005775.5

p.E281K

c.841G>A

2 papers

NM_005775.5

p.K301R

c.902A>G

2 papers

NM_005775.5

p.I556T

c.1667T>C

1 paper

NM_005775.5

p.A10T

c.28G>A

1 paper

NM_005775.5

p.S13R

c.39C>G

1 paper

NM_005775.5

p.H21P

c.62A>C

1 paper

NM_005775.5

p.P55ins1

c.164_165insACA

1 paper

NM_005775.5

p.V58M

c.172G>A

1 paper

NM_005775.5

p.P65P

c.195A>T

1 paper

NM_005775.5

p.S70S

c.210C>T

1 paper

NM_005775.5

p.G83D

c.248G>A