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

2 papers

NM_005775.5

p.K301R

c.902A>G

Surrounding Variants

1 paper

NM_005775.5

p.R296Q

c.887G>A

2 papers

NM_005775.5

p.E281K

c.841G>A

1 paper

NM_005775.5

p.E272_V273Splc

c.817-2A>G

1 paper

NM_005775.5

p.A309T

c.925G>A

1 paper

NM_005775.5

p.P255L

c.764C>T

1 paper

NM_005775.5

p.Y326F

c.977A>T

1 paper

NM_005775.5

p.E239G

c.716A>G

1 paper

NM_005775.5

p.L332Q

c.995T>A

1 paper

NM_005775.5

p.L332P

c.995T>C

1 paper

NM_005775.5

p.G333D

c.998G>A

1 paper

NM_005775.5

p.L338L

c.1012C>T

1 paper

NM_005775.5

p.D355E

c.1065C>A