Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.Q262K

GDF5

218 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 144–345UCSCTGF-beta propeptide
TGF_betaaa 399–500UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 5

HGNC Alias Symbols

CDMP1; BMP14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000557.5
p.Q262K
c.784C>A
Surrounding Variants
4 papers
NM_000557.5
p.L263P
c.788T>C
1 paper
NM_000557.5
p.L263ins1
c.788_789insTCT
1 paper
NM_000557.5
p.G257S
c.769G>A
1 paper
NM_000557.5
p.S267N
c.800G>A
1 paper
NM_000557.5
p.P255_S267delFs
c.765_799del35
1 paper
NM_000557.5
p.G256R
c.766G>C
1 paper
NM_000557.5
p.G256R
c.766G>A
1 paper
NM_000557.5
p.C268F
c.803G>T
1 paper
NM_000557.5
p.A254D
c.761C>A
2 papers
NM_000557.5
p.A253delFs
c.759delC
1 paper
NM_000557.5
p.A253fs
c.757_758fs
5 papers
NM_000557.5
p.A276S
c.826G>T
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