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.K410N

c.1230A>C

Surrounding Variants

1 paper

NM_003239.5

p.K410N

c.1230A>T

1 paper

NM_003239.5

p.K410K

c.1230A>G

7 papers

NM_003239.5

p.C409Y

c.1226G>A

1 paper

NM_003239.5

p.S412G

c.1234A>G

1 paper

NM_003239.5

p.*413R

c.1237T>C

1 paper

NM_003239.5

p.V406fs

c.1216_1217fs

1 paper

NM_003239.5

p.M404insFs

c.1211dupT

5 papers

NM_003239.5

p.L401P

c.1202T>C

1 paper

NM_003239.5

p.P396insFs

c.1188dupC

1 paper

NM_003239.5

p.P396fs

c.1186_1187fs

2 papers

NM_003239.5

p.V392A

c.1175T>C

1 paper

NM_003239.5

p.V392I

c.1174G>A