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.H84H

c.252T>C

Surrounding Variants

1 paper

NM_003239.5

p.H84L

c.251A>T

1 paper

NM_003239.5

p.G85E

c.254G>A

1 paper

NM_003239.5

p.G85_E86delFs

c.253_256del4

2 papers

NM_003239.5

p.E81V

c.242A>T

1 paper

NM_003239.5

p.E78fs

c.232_233fs

2 papers

NM_003239.5

p.E78delFs

c.232delC

1 paper

NM_003239.5

p.E78fs

c.232_233fs

1 paper

NM_003239.5

p.R77W

c.229C>T

1 paper

NM_003239.5

p.S75G

c.223A>G

4 papers

NM_003239.5

p.S98L

c.293C>T

2 papers

NM_003239.5

p.S98S

c.294G>A

1 paper

NM_003239.5

p.E99K

c.295G>A