Varaico: Literature-Extracted Genetic Variants

Gene:GDF15
Variant:p.S48T

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
6 papers
NM_004864.4
p.S48T
c.142T>A
Surrounding Variants
1 paper
NM_004864.4
p.P41T
c.121C>A
1 paper
NM_004864.4
p.E55*
c.163G>T
1 paper
NM_004864.4
p.R68G
c.202C>G
1 paper
NM_004864.4
p.G28fs
c.82_83fs
1 paper
NM_004864.4
p.H26Q
c.78T>A
1 paper
NM_004864.4
p.P25R
c.74C>G
5 papers
NM_004864.4
p.Q71E
c.211C>G
1 paper
NM_004864.4
p.W73*
c.218G>A
1 paper
NM_004864.4
p.W73*
c.219G>A
1 paper
NM_004864.4
p.V20A
c.59T>C
1 paper
NM_004864.4
p.T78A
c.232A>G
1 paper
NM_004864.4
p.L16_L18del3
c.46_53del9
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