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

1 paper

NM_001135599.4

p.E225*

c.673G>T

Surrounding Variants

1 paper

NM_003238.6

p.G196G

c.588C>T

1 paper

NM_003238.6

p.R193fs

c.577_578fs

1 paper

NM_001135599.4

p.F229L

c.687C>A

1 paper

NM_003238.6

p.T192_R193delFs

c.576_577delAA

1 paper

NM_003238.6

p.D202_V203del2

c.604_608del6

1 paper

NM_003238.6

p.T204S

c.610A>T

1 paper

NM_003238.6

p.T204S

c.611C>G

8 papers

NM_003238.6

p.V207L

c.619G>C

1 paper

NM_001135599.4

p.E237*

c.709G>T

1 paper

NM_003238.6

p.W210*

c.629G>A

1 paper

NM_003238.6

p.R183H

c.548G>A

1 paper

NM_003238.6

p.W210*

c.630G>A