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.G252Splc

c.755-5T>C

Surrounding Variants

1 paper

NM_003239.5

p.G252Splc

c.755-1G>C

1 paper

NM_003239.5

p.D257Y

c.769G>T

1 paper

NM_003239.5

p.V253_E256del4

c.757_767del12

1 paper

NM_003239.5

p.D258H

c.772G>C

2 papers

NM_003239.5

p.G262V

c.785G>T

7 papers

NM_003239.5

p.D263H

c.787G>C

2 papers

NM_003239.5

p.R266C

c.796C>T

1 paper

NM_003239.5

p.N255_L267delFs

c.765_799del35

2 papers

NM_003239.5

p.K271N

c.813G>T

3 papers

NM_003239.5

p.K271N

c.813G>C

2 papers

NM_003239.5

p.P276S

c.826C>T

1 paper

NM_003239.5

p.L278L

c.832C>T