Varaico: Literature-Extracted Genetic Variants

Gene:GDF15
Variant:p.C240S

GDF15

134 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 210–307UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 15

HGNC Alias Symbols

PLAB; MIC-1; MIC1; NAG-1; PTGFB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004864.4
p.C240S
c.718T>A
Surrounding Variants
1 paper
NM_004864.4
p.C240S
c.719G>C
1 paper
NM_004864.4
p.C244S
c.730T>A
1 paper
NM_004864.4
p.C244S
c.731G>C
1 paper
NM_004864.4
p.R249Q
c.746G>A
1 paper
NM_004864.4
p.A255T
c.763G>A
1 paper
NM_004864.4
p.G224G
c.672C>T
1 paper
NM_004864.4
p.G224D
c.671G>A
1 paper
NM_004864.4
p.A255A
c.765G>C
1 paper
NM_004864.4
p.K258R
c.773A>G
1 paper
NM_004864.4
p.S219L
c.656C>T
1 paper
NM_004864.4
p.A218P
c.652G>C
1 paper
NM_004864.4
p.R217insFs
c.649dupC
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