Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.G70S

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.G70S
c.208G>A
Surrounding Variants
1 paper
NM_022130.4
p.G70D
c.209G>A
1 paper
NM_022130.4
p.G70G
c.210C>A
1 paper
NM_022130.4
p.L71H
c.212T>A
1 paper
NM_022130.4
p.D73H
c.217G>C
1 paper
NM_022130.4
p.L67I
c.199C>A
1 paper
NM_022130.4
p.D73V
c.218A>T
1 paper
NM_022130.4
p.V66G
c.197T>G
1 paper
NM_022130.4
p.V66M
c.196G>A
2 papers
NM_022130.4
p.R74C
c.220C>T
1 paper
NM_022130.4
p.R74H
c.221G>A
1 paper
NM_022130.4
p.E64D
c.192G>T
1 paper
NM_022130.4
p.E64D
c.192G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."