Varaico: Literature-Extracted Genetic Variants

Gene:GDF10
Variant:p.R340C

GDF10

103 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

TGF_betaaa 375–477UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 10

HGNC Alias Symbol

BMP-3b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004962.5
p.R340C
c.1018C>T
Surrounding Variants
1 paper
NM_004962.5
p.R340H
c.1019G>A
1 paper
NM_004962.5
p.P333R
c.998C>G
1 paper
NM_004962.5
p.S326R
c.978C>A
1 paper
NM_004962.5
p.S326R
c.978C>G
1 paper
NM_004962.5
p.S326R
c.976A>C
1 paper
NM_004962.5
p.K360M
c.1079A>T
1 paper
NM_004962.5
p.A315T
c.943G>A
1 paper
NM_004962.5
p.R366fs
c.1096_1097fs
1 paper
NM_004962.5
p.K368fs
c.1102_1103fs
1 paper
NM_004962.5
p.Y380C
c.1139A>G
1 paper
NM_004962.5
p.P297P
c.891C>A
1 paper
NM_004962.5
p.D384N
c.1150G>A
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