Varaico: Literature-Extracted Genetic Variants

Gene:GDF7
Variant:p.Y376H

GDF7

57 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 67–241UCSCTGF-beta propeptide
TGF_betaaa 348–449UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 7

HGNC Alias Symbol

BMP12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182828.4
p.Y376H
c.1126T>C
Surrounding Variants
1 paper
NM_182828.4
p.L361F
c.1081C>T
1 paper
NM_182828.4
p.A396V
c.1187C>T
1 paper
NM_182828.4
p.A406T
c.1216G>A
1 paper
NM_182828.4
p.R343C
c.1027C>T
1 paper
NM_182828.4
p.A409T
c.1225G>A
1 paper
NM_182828.4
p.C414*
c.1242C>A
1 paper
NM_182828.4
p.G334R
c.1000G>C
1 paper
NM_182828.4
p.Q331H
c.993G>C
1 paper
NM_182828.4
p.Q331H
c.993G>T
2 papers
NM_182828.4
p.A330S
c.988G>T
1 paper
NM_182828.4
p.I423M
c.1269C>G
1 paper
NM_182828.4
p.A323V
c.968C>T
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