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.E337K

c.1009G>A

Surrounding Variants

1 paper

NM_001135599.4

p.H364R

c.1091A>G

4 papers

NM_001135599.4

p.P366H

c.1097C>A

NM_003238.6

p.P338H

c.1013C>A

1 paper

NM_003238.6

p.W334R

c.1000T>A

1 paper

NM_003238.6

p.W334R

c.1000T>C

1 paper

NM_003238.6

p.G340V

c.1019G>T

5 papers

NM_003238.6

p.Y341_N342delFs

c.1021_1025del5

NM_001135599.4

p.Y369_N370delFs

c.1106_1110del5

5 papers

NM_003238.6

p.Y341fs

c.1021_1022fs

NM_001135599.4

p.Y369fs

c.1105_1106fs

1 paper

NM_003238.6

p.Y341delFs

c.1023delC

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.N344K

c.1032C>A

1 paper

NM_003238.6

p.N344K

c.1032C>G