Varaico: Literature-Extracted Genetic Variants

TGFB3

333 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGFb_propeptideaa 24–260UCSCTGF-beta propeptide

TGF_betaaa 314–411UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

transforming growth factor beta 3

HGNC Previous Symbols

ARVD1; ARVD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003239.5

p.T28T

c.84C>A

Surrounding Variants

3 papers

NM_003239.5

p.T28P

c.82A>C

1 paper

NM_003239.5

p.T26A

c.76A>G

1 paper

NM_003239.5

p.S25Y

c.74C>A

1 paper

NM_003239.5

p.F32F

c.96C>T

3 papers

NM_003239.5

p.G33S

c.97G>A

1 paper

NM_003239.5

p.S23C

c.68C>G

1 paper

NM_003239.5

p.H34delFs

c.100delG

2 papers

NM_003239.5

p.K36*

c.106A>T

1 paper

NM_003239.5

p.K36E

c.106A>G

1 paper

NM_003239.5

p.S21fs

c.61_62fs

1 paper

NM_003239.5

p.K38_R39insFs

c.114_115insA

1 paper

NM_003239.5

p.A18P

c.52G>C