Varaico: Literature-Extracted Genetic Variants

Gene:GDF10
Variant:p.P197L

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.P197L
c.590C>T
Surrounding Variants
1 paper
NM_004962.5
p.A190T
c.568G>A
1 paper
NM_004962.5
p.L186P
c.557T>C
1 paper
NM_004962.5
p.T181T
c.543G>A
1 paper
NM_004962.5
p.R215W
c.643C>T
2 papers
NM_004962.5
p.R175H
c.524G>A
1 paper
NM_004962.5
p.R169C
c.505C>T
1 paper
NM_004962.5
p.L164delFs
c.492delG
1 paper
NM_004962.5
p.L164fs
c.490_491fs
1 paper
NM_004962.5
p.P161L
c.482C>T
1 paper
NM_004962.5
p.P235T
c.703C>A
1 paper
NM_004962.5
p.R236Q
c.707G>A
1 paper
NM_004962.5
p.S158T
c.472T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."