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.C318F

c.953G>T

Surrounding Variants

1 paper

NM_003238.6

p.C318Y

c.953G>A

2 papers

NM_001135599.4

p.L347V

c.1039C>G

7 papers

NM_003238.6

p.R320C

c.958C>T

NM_001135599.4

p.R348C

c.1042C>T

1 paper

NM_001135599.4

p.R348H

c.1043G>A

1 paper

NM_003238.6

p.V313V

c.939G>T

1 paper

NM_003238.6

p.I324F

c.970A>T

1 paper

NM_003238.6

p.F326Y

c.977T>A

1 paper

NM_003238.6

p.L330I

c.988C>A

4 papers

NM_003238.6

p.L330L

c.988C>T

1 paper

NM_003238.6

p.W334R

c.1000T>A

1 paper

NM_003238.6

p.W334R

c.1000T>C

1 paper

NM_001135599.4

p.H364R

c.1091A>G