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

4 papers

NM_003239.5

p.R155W

c.463C>T

Surrounding Variants

1 paper

NM_003239.5

p.R155fs

c.463_464fs

1 paper

NM_003239.5

p.L154L

c.460T>C

1 paper

NM_003239.5

p.V156V

c.468G>A

1 paper

NM_003239.5

p.R148_F151del4

c.442_452del12

1 paper

NM_003239.5

p.P157L

c.470C>T

2 papers

NM_003239.5

p.R152W

c.454C>T

1 paper

NM_003239.5

p.A149E

c.446C>A

1 paper

NM_003239.5

p.R148Q

c.443G>A

1 paper

NM_003239.5

p.R148*

c.442C>T

3 papers

NM_003239.5

p.R163W

c.487C>T

1 paper

NM_003239.5

p.L146delFs

c.437delA

1 paper

NM_003239.5

p.L146fs

c.436_437fs