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

3 papers

NM_003239.5

p.N235fs

c.703_704fs

Surrounding Variants

3 papers

NM_003239.5

p.N235delFs

c.704delT

2 papers

NM_003239.5

p.E244K

c.730G>A

1 paper

NM_003239.5

p.I223T

c.668T>C

1 paper

NM_003239.5

p.I248V

c.742A>G

1 paper

NM_003239.5

p.F250L

c.750C>G

1 paper

NM_003239.5

p.G252S

c.754G>A

1 paper

NM_003239.5

p.K249_F250del0

c.745_750del6

1 paper

NM_003239.5

p.N218fs

c.652_653fs

4 papers

NM_003239.5

p.G252Splc

c.754+2T>C

2 papers

NM_003239.5

p.G252Splc

c.754+5C>T

1 paper

NM_003239.5

p.E216G

c.647A>G

4 papers

NM_003239.5

p.G252Splc

c.755-5T>C