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.R302P

c.905G>C

Surrounding Variants

6 papers

NM_003238.6

p.R302H

c.905G>A

NM_001135599.4

p.R330H

c.989G>A

1 paper

NM_003238.6

p.R302L

c.905G>T

1 paper

NM_003238.6

p.R302S

c.904C>A

8 papers

NM_001135599.4

p.R330C

c.988C>T

NM_003238.6

p.R302C

c.904C>T

1 paper

NM_003238.6

p.A303T

c.907G>A

2 papers

NM_001135599.4

p.A331S

c.991G>T

NM_003238.6

p.A303S

c.907G>T

1 paper

NM_001135599.4

p.K329insFs

c.986dupA

1 paper

NM_003238.6

p.D305H

c.913G>C

1 paper

NM_003238.6

p.K300delFs

c.898delA

7 papers

NM_001135599.4

p.R327Q

c.980G>A

NM_003238.6

p.R299Q

c.896G>A

14 papers

NM_003238.6

p.R299W

c.895C>T

NM_001135599.4

p.R327W

c.979C>T

1 paper

NM_001135599.4

p.A334delFs

c.1000delG