Varaico: Literature-Extracted Genetic Variants

TGFB2

320 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 21–282UCSCTGF-beta propeptide

TGF_betaaa 316–413UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

transforming growth factor beta 2

HGNC Previous Name

transforming growth factor, beta 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001135599.4

p.A375delFs

c.1125delT

Surrounding Variants

2 papers

NM_001135599.4

p.G376fs

c.1126_1127fs

1 paper

NM_001135599.4

p.G376E

c.1127G>A

1 paper

NM_003238.6

p.G348A

c.1043G>C

1 paper

NM_003238.6

p.C346F

c.1037G>T

1 paper

NM_003238.6

p.A349T

c.1045G>A

1 paper

NM_003238.6

p.A349V

c.1046C>T

1 paper

NM_003238.6

p.N344K

c.1032C>A

1 paper

NM_003238.6

p.N344K

c.1032C>G

1 paper

NM_003238.6

p.C350Y

c.1049G>A

3 papers

NM_001135599.4

p.P379L

c.1136C>T

NM_003238.6

p.P351L

c.1052C>T

1 paper

NM_003238.6

p.Y341delFs

c.1023delC

5 papers

NM_003238.6

p.Y341fs

c.1021_1022fs

NM_001135599.4

p.Y369fs

c.1105_1106fs