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.R44M

c.131G>T

Surrounding Variants

1 paper

NM_003239.5

p.R44K

c.131G>A

1 paper

NM_003239.5

p.G45E

c.134G>A

1 paper

NM_003239.5

p.V40_A42del0

c.120_125del6

1 paper

NM_003239.5

p.K38_G45del0

c.112_135del24

1 paper

NM_003239.5

p.K38_R39insFs

c.114_115insA

1 paper

NM_003239.5

p.K50_L51delFs

c.148_151del4

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.H34delFs

c.100delG

1 paper

NM_003239.5

p.S55I

c.164G>T

1 paper

NM_003239.5

p.S55N

c.164G>A

3 papers

NM_003239.5

p.G33S

c.97G>A