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_001135599.4

p.F248L

c.742T>C

Surrounding Variants

1 paper

NM_001135599.4

p.G247V

c.740G>T

1 paper

NM_001135599.4

p.G247_F248delFs

c.741_742delAT

1 paper

NM_001135599.4

p.F248L

c.744T>A

1 paper

NM_001135599.4

p.F248L

c.744T>G

1 paper

NM_003238.6

p.G219R

c.655G>A

1 paper

NM_003238.6

p.G219R

c.655G>C

1 paper

NM_003238.6

p.K221T

c.662A>C

1 paper

NM_001135599.4

p.L246delFs

c.736delC

1 paper

NM_003238.6

p.D215G

c.644A>G

1 paper

NM_003238.6

p.D215Splc

c.644-1G>C

1 paper

NM_003238.6

p.D215Splc

c.644-2A>G

3 papers

NM_003238.6

p.C229*

c.687C>A

NM_001135599.4

p.C257*

c.771C>A