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.K130R

c.389A>G

Surrounding Variants

2 papers

NM_003239.5

p.R133C

c.397C>T

1 paper

NM_003239.5

p.R133H

c.398G>A

1 paper

NM_003239.5

p.P124T

c.370C>A

3 papers

NM_003239.5

p.S138A

c.412T>G

1 paper

NM_003239.5

p.A121P

c.361G>C

1 paper

NM_003239.5

p.E140D

c.420G>T

1 paper

NM_003239.5

p.E140D

c.420G>C

1 paper

NM_003239.5

p.E119K

c.355G>A

1 paper

NM_003239.5

p.R143*

c.427A>T

1 paper

NM_003239.5

p.N118Splc

c.353-8T>A

1 paper

NM_003239.5

p.L146fs

c.436_437fs

1 paper

NM_003239.5

p.L146delFs

c.437delA