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.P60H

c.179C>A

Surrounding Variants

1 paper

NM_003238.6

p.E61K

c.181G>A

1 paper

NM_003238.6

p.E59K

c.175G>A

1 paper

NM_003238.6

p.P65insFs

c.194dupC

1 paper

NM_003238.6

p.P64L

c.191C>T

1 paper

NM_003238.6

p.D56N

c.166G>A

2 papers

NM_003238.6

p.P65S

c.193C>T

1 paper

NM_003238.6

p.I68delFs

c.202_203delAT

1 paper

NM_003238.6

p.K49*

c.145A>T

1 paper

NM_003238.6

p.N72H

c.214A>C

2 papers

NM_003238.6

p.N72Y

c.214A>T

1 paper

NM_003238.6

p.S73N

c.218G>A

1 paper

NM_003238.6

p.T74P

c.220A>C