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.A100T

c.298G>A

Surrounding Variants

1 paper

NM_003238.6

p.A100S

c.298G>T

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.A100_K101insFs

c.300_301ins7

2 papers

NM_003238.6

p.E102_V103del1

c.305_307delAGG

3 papers

NM_003238.6

p.Y98_V103del0

c.294_308del15

3 papers

NM_003238.6

p.E102*

c.304G>T

1 paper

NM_003238.6

p.D95Y

c.283G>T

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.I106_P109delFs

c.318_325del8