Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.Q47L

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.Q47L
c.140A>T
Surrounding Variants
1 paper
NM_022130.4
p.Q47K
c.139C>A
2 papers
NM_022130.4
p.D49N
c.145G>A
1 paper
NM_022130.4
p.D45A
c.134A>C
1 paper
NM_022130.4
p.D49E
c.147C>A
1 paper
NM_022130.4
p.D50N
c.148G>A
1 paper
NM_022130.4
p.R44R
c.132C>A
1 paper
NM_022130.4
p.R44L
c.131G>T
1 paper
NM_022130.4
p.D50E
c.150C>A
1 paper
NM_022130.4
p.R43L
c.128G>T
1 paper
NM_022130.4
p.K52Q
c.154A>C
1 paper
NM_022130.4
p.G53D
c.158G>A
1 paper
NM_022130.4
p.G53G
c.159C>A
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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."