Varaico: Literature-Extracted Genetic Variants

Gene:GDF11
Variant:p.N94fs

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.N94fs
c.280_281fs
Surrounding Variants
1 paper
NM_005811.5
p.P93_R97delFs
c.279_289del11
1 paper
NM_005811.5
p.E91delFs
c.273delG
2 papers
NM_005811.5
p.L84_S85insGCG
c.250_254ins9
1 paper
NM_005811.5
p.R75_L76insFs
c.225_226insAC
1 paper
NM_005811.5
p.I113T
c.338T>C
1 paper
NM_005811.5
p.S71T
c.212G>C
1 paper
NM_005811.5
p.H136P
c.407A>C
1 paper
NM_005811.5
p.S49I
c.146G>T
1 paper
NM_005811.5
p.S48C
c.143C>G
2 papers
NM_005811.5
p.E46G
c.137A>G
1 paper
NM_005811.5
p.V43G
c.128T>G
1 paper
NM_005811.5
p.M145_A146insFs
c.434_437dup4
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