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_003238.6

p.D95Y

c.283G>T

Surrounding Variants

1 paper

NM_003238.6

p.S94R

c.282C>G

1 paper

NM_003238.6

p.S94I

c.281G>T

1 paper

NM_003238.6

p.S94fs

c.280_281fs

1 paper

NM_003238.6

p.S94_A100delFs

c.280_298del19

1 paper

NM_003238.6

p.E92K

c.274G>A

2 papers

NM_003238.6

p.E92*

c.274G>T

3 papers

NM_003238.6

p.Y98_V103del0

c.294_308del15

13 papers

NM_003238.6

p.R91H

c.272G>A

1 paper

NM_003238.6

p.E90G

c.269A>G

4 papers

NM_003238.6

p.Y99*

c.297C>A

4 papers

NM_003238.6

p.Y99*

c.297C>G

1 paper

NM_003238.6

p.A100T

c.298G>A