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.D109V

c.326A>T

Surrounding Variants

2 papers

NM_003239.5

p.D109N

c.325G>A

1 paper

NM_003239.5

p.D109D

c.327C>T

1 paper

NM_003239.5

p.F108F

c.324C>T

1 paper

NM_003239.5

p.I111T

c.332T>C

1 paper

NM_003239.5

p.M110_Q112del0

c.329_334del6

1 paper

NM_003239.5

p.G113A

c.338G>C

1 paper

NM_003239.5

p.G113E

c.338G>A

1 paper

NM_003239.5

p.G113G

c.339G>A

1 paper

NM_003239.5

p.L114_A115insA

c.340_344ins3

1 paper

NM_003239.5

p.H117H

c.351C>T

1 paper

NM_003239.5

p.N118Splc

c.352+5G>A

1 paper

NM_003239.5

p.E99K

c.295G>A