Varaico: Literature-Extracted Genetic Variants

Gene:GDF11
Variant:p.G210V

GDF11

44 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 60–287UCSCTGF-beta propeptide
TGF_betaaa 312–406UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 11

HGNC Alias Symbols

BMP-11; BMP11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005811.5
p.G210V
c.629G>T
Surrounding Variants
1 paper
NM_005811.5
p.G214*
c.640G>T
1 paper
NM_005811.5
p.A191_T192delFs
c.573_574delCA
1 paper
NM_005811.5
p.A191fs
c.571_572fs
1 paper
NM_005811.5
p.R189C
c.565C>T
1 paper
NM_005811.5
p.Q179E
c.535C>G
1 paper
NM_005811.5
p.A178T
c.532G>A
1 paper
NM_005811.5
p.F248S
c.743T>C
1 paper
NM_005811.5
p.R249C
c.745C>T
1 paper
NM_005811.5
p.L274L
c.822G>A
2 papers
NM_005811.5
p.R295P
c.884G>C
2 papers
NM_005811.5
p.R298Q
c.893G>A
1 paper
NM_005811.5
p.R298P
c.893G>C
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