Varaico: Literature-Extracted Genetic Variants

Gene:GDF7
Variant:p.A151T

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
1 paper
NM_182828.4
p.A151T
c.451G>A
Surrounding Variants
1 paper
NM_182828.4
p.T137S
c.409A>T
1 paper
NM_182828.4
p.S166F
c.497C>T
1 paper
NM_182828.4
p.S169ins8
c.506_507ins24
1 paper
NM_182828.4
p.P202P
c.606C>T
1 paper
NM_182828.4
p.Q206*
c.616C>T
1 paper
NM_182828.4
p.A210V
c.629C>T
3 papers
NM_182828.4
p.R225fs
c.673_674fs
2 papers
NM_182828.4
p.R225delFs
c.675delC
1 paper
NM_182828.4
p.R228fs
c.682_683fs
1 paper
NM_182828.4
p.L232V
c.694C>G
1 paper
NM_182828.4
p.L233_L234delins
c.699_700delinsAA
1 paper
NM_182828.4
p.L234M
c.700C>A
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