Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.G76C

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.G76C
c.226G>T
Surrounding Variants
1 paper
NM_022130.4
p.G76S
c.226G>A
2 papers
NM_022130.4
p.E75_G76Splc
c.226-1G>C
1 paper
NM_022130.4
p.G76A
c.227G>C
2 papers
NM_022130.4
p.D83A
c.248A>C
1 paper
NM_022130.4
p.C84F
c.251G>T
1 paper
NM_022130.4
p.S86T
c.256T>A
1 paper
NM_022130.4
p.G88*
c.262G>T
1 paper
NM_022130.4
p.G88R
c.262G>A
1 paper
NM_022130.4
p.L89F
c.267A>T
1 paper
NM_022130.4
p.L89F
c.267A>C
1 paper
NM_022130.4
p.R90_G91ins4
c.268_272ins12
6 papers
NM_022130.4
p.R90L
c.269G>T
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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."