Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.S36R

GOLPH3

361 papers

RefSeq Summary

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi s...

Pfam Domains

GPP34aa 62–291UCSCGolgi phosphoprotein 3 (GPP34)

Gene Aliases

HGNC Name

golgi phosphoprotein 3

HGNC Alias Symbols

GPP34; GOPP1; MIDAS; Vps74

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022130.4
p.S36R
c.108C>A
Surrounding Variants
1 paper
NM_022130.4
p.E37_D38insA
c.109_113ins3
1 paper
NM_022130.4
p.E37Q
c.109G>C
1 paper
NM_022130.4
p.G34V
c.101G>T
1 paper
NM_022130.4
p.G34D
c.101G>A
1 paper
NM_022130.4
p.G34C
c.100G>T
1 paper
NM_022130.4
p.G34R
c.100G>C
2 papers
NM_022130.4
p.G34S
c.100G>A
1 paper
NM_022130.4
p.D39A
c.116A>C
1 paper
NM_022130.4
p.G30_G31insFs
c.90_91ins4
3 papers
NM_022130.4
p.G30insFs
c.89_90insG
1 paper
NM_022130.4
p.R43L
c.128G>T
1 paper
NM_022130.4
p.R44L
c.131G>T
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