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.L368_N369delFs

c.1102_1105del4

Surrounding Variants

1 paper

NM_003239.5

p.P370S

c.1108C>T

1 paper

NM_003239.5

p.L368fs

c.1102_1103fs

3 papers

NM_003239.5

p.Y365*

c.1095C>G

3 papers

NM_003239.5

p.Y365*

c.1095C>A

1 paper

NM_003239.5

p.L364P

c.1091T>C

1 paper

NM_003239.5

p.C377Y

c.1130G>A

1 paper

NM_003239.5

p.V361ins1

c.1081_1082insAGA

1 paper

NM_003239.5

p.T360_V361Splc

c.1081-2A>T

1 paper

NM_003239.5

p.V379M

c.1135G>A

1 paper

NM_003239.5

p.P380S

c.1138C>T

1 paper

NM_003239.5

p.P385S

c.1153C>T

2 papers

NM_003239.5

p.L386fs

c.1156_1157fs