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.R249S

c.747A>T

Surrounding Variants

1 paper

NM_003238.6

p.R249S

c.747A>C

2 papers

NM_001135599.4

p.R277R

c.831A>G

NM_003238.6

p.R249R

c.747A>G

2 papers

NM_003238.6

p.A251S

c.751G>T

1 paper

NM_003238.6

p.A248T

c.742G>A

1 paper

NM_003238.6

p.E247G

c.740A>G

1 paper

NM_003238.6

p.G252S

c.754G>A

1 paper

NM_003238.6

p.E247K

c.739G>A

1 paper

NM_003238.6

p.G252V

c.755G>T

1 paper

NM_003238.6

p.G252Splc

c.754+6C>T

1 paper

NM_003238.6

p.N241K

c.723T>A

1 paper

NM_003238.6

p.N241D

c.721A>G

1 paper

NM_003238.6

p.P240Q

c.719C>A