Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.L177I

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
4 papers
NM_022130.4
p.L177I
c.529T>A
Surrounding Variants
1 paper
NM_022130.4
p.L177L
c.529T>C
1 paper
NM_022130.4
p.E175A
c.524A>C
1 paper
NM_022130.4
p.R174R
c.522G>A
2 papers
NM_022130.4
p.R174L
c.521G>T
1 paper
NM_022130.4
p.V173A
c.518T>C
1 paper
NM_022130.4
p.N172Y
c.514A>T
1 paper
NM_022130.4
p.R171*
c.511A>T
1 paper
NM_022130.4
p.K184T
c.551A>C
1 paper
NM_022130.4
p.Y168H
c.502T>C
1 paper
NM_022130.4
p.L166L
c.496T>C
2 papers
NM_022130.4
p.K165R
c.494A>G
1 paper
NM_022130.4
p.T188T
c.564A>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."