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.G252Splc

c.755-6T>C

Surrounding Variants

1 paper

NM_001135599.4

p.G280Splc

c.839-1G>A

1 paper

NM_003238.6

p.G252V

c.755G>T

2 papers

NM_001135599.4

p.G280fs

c.838_839fs

1 paper

NM_003238.6

p.G252G

c.756T>C

1 paper

NM_003238.6

p.G255_I267delFs

c.765_799del35

1 paper

NM_003238.6

p.Y259*

c.777T>A

1 paper

NM_003238.6

p.Y259*

c.777T>G

1 paper

NM_001135599.4

p.D291_K296insFs

c.873_888dup16

1 paper

NM_001135599.4

p.Q292delFs

c.874delC

1 paper

NM_001135599.4

p.T294_H308del15

c.880_923del45

1 paper

NM_003238.6

p.R271K

c.812G>A

1 paper

NM_001135599.4

p.K300_K301ins7

c.898_902ins21