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

1–12 of 233 variants

12 papers

NM_003239.5

p.R300Q

c.899G>A

10 papers

NM_003239.5

p.R300W

c.898C>T

7 papers

NM_003239.5

p.T63N

c.188C>A

7 papers

NM_003239.5

p.D263H

c.787G>C

7 papers

NM_003239.5

p.C409Y

c.1226G>A

6 papers

NM_003239.5

p.L12L

c.36G>A

5 papers

NM_003239.5

p.L401P

c.1202T>C

4 papers

NM_003239.5

p.S98L

c.293C>T

4 papers

NM_003239.5

p.R155W

c.463C>T

4 papers

NM_003239.5

p.G252Splc

c.754+2T>C

4 papers

NM_003239.5

p.G252Splc

c.755-5T>C

4 papers

NM_003239.5

p.R300G

c.898C>G