Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.D247E

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.D247E
c.741C>G
Surrounding Variants
1 paper
NM_022130.4
p.D247D
c.741C>T
1 paper
NM_022130.4
p.D247E
c.741C>A
1 paper
NM_022130.4
p.D247A
c.740A>C
1 paper
NM_022130.4
p.D247N
c.739G>A
1 paper
NM_022130.4
p.V248V
c.744C>G
1 paper
NM_022130.4
p.A252V
c.755C>T
2 papers
NM_022130.4
p.A252D
c.755C>A
1 paper
NM_022130.4
p.Y241S
c.722A>C
1 paper
NM_022130.4
p.L239P
c.716T>C
1 paper
NM_022130.4
p.L239F
c.715C>T
1 paper
NM_022130.4
p.E259A
c.776A>C
1 paper
NM_022130.4
p.R235H
c.704G>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."