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

Selected Variant

3 papers

NM_005775.5

p.T573A

c.1717A>G

Surrounding Variants

1 paper

NM_005775.5

p.G568D

c.1703G>A

1 paper

NM_005775.5

p.R565H

c.1694G>A

1 paper

NM_005775.5

p.D557D

c.1671C>T

2 papers

NM_005775.5

p.I556T

c.1667T>C

1 paper

NM_005775.5

p.S547*

c.1640C>A

1 paper

NM_005775.5

p.S547*

c.1640C>G

1 paper

NM_005775.5

p.S539fs

c.1615_1616fs

1 paper

NM_005775.5

p.R532C

c.1594C>T

1 paper

NM_005775.5

p.P528S

c.1582C>T

1 paper

NM_005775.5

p.G500E

c.1499G>A

1 paper

NM_005775.5

p.R485C

c.1453C>T

1 paper

NM_005775.5

p.I484_G494del11

c.1450_1481del33