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.M1V

c.1A>G

Surrounding Variants

1 paper

NM_003239.5

p.M1T

c.2T>C

1 paper

NM_003239.5

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG

1 paper

NM_003239.5

p.M1delFs

c.1_2delAT

1 paper

NM_003239.5

p.K2insFs

c.4dupA

1 paper

NM_003239.5

p.M3L

c.7A>T

1 paper

NM_003239.5

p.M3L

c.7A>C

1 paper

NM_003239.5

p.M3T

c.8T>C

1 paper

NM_003239.5

p.M3I

c.9G>T

1 paper

NM_003239.5

p.M3I

c.9G>C

1 paper

NM_003239.5

p.M3I

c.9G>A

1 paper

NM_003239.5

p.H4L

c.11A>T

1 paper

NM_003239.5

p.V10insFs

c.28_29insA