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

1 paper

NM_005775.5

p.F167F

c.501C>T

Surrounding Variants

1 paper

NM_005775.5

p.Q162_W165delFs

c.484_494del11

1 paper

NM_005775.5

p.R196I

c.587G>T

1 paper

NM_005775.5

p.S197fs

c.589_590fs

1 paper

NM_005775.5

p.S201_L204delFs

c.601_611del11

1 paper

NM_005775.5

p.F216_V219delFs

c.646_656del11

1 paper

NM_005775.5

p.T218I

c.653C>T

1 paper

NM_005775.5

p.E239G

c.716A>G

1 paper

NM_005775.5

p.P255L

c.764C>T

1 paper

NM_005775.5

p.R156Q

c.467G>A

1 paper

NM_005775.5

p.P143S

c.427C>T

1 paper

NM_005775.5

p.E272_V273Splc

c.817-2A>G

2 papers

NM_005775.5

p.E281K

c.841G>A