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.A18P

c.52G>C

Surrounding Variants

1 paper

NM_003239.5

p.L15P

c.44T>C

1 paper

NM_003239.5

p.L15Q

c.44T>A

1 paper

NM_003239.5

p.S21fs

c.61_62fs

1 paper

NM_003239.5

p.V10_L12ins1

c.28_36dup9

6 papers

NM_003239.5

p.L12L

c.36G>A

1 paper

NM_003239.5

p.S23C

c.68C>G

1 paper

NM_003239.5

p.V11V

c.33C>A

3 papers

NM_003239.5

p.V10V

c.30G>A

1 paper

NM_003239.5

p.S25Y

c.74C>A

2 papers

NM_003239.5

p.V10A

c.29T>C

1 paper

NM_003239.5

p.V10insFs

c.28_29insA

1 paper

NM_003239.5

p.T26A

c.76A>G