Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.L103I

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
3 papers
NM_022130.4
p.L103I
c.307T>A
Surrounding Variants
1 paper
NM_022130.4
p.L103S
c.308T>C
1 paper
NM_022130.4
p.Q104K
c.310C>A
1 paper
NM_022130.4
p.R102W
c.304A>T
1 paper
NM_022130.4
p.G101A
c.302G>C
1 paper
NM_022130.4
p.E106Q
c.316G>C
1 paper
NM_022130.4
p.G109R
c.325G>C
3 papers
NM_022130.4
p.G109R
c.325G>A
1 paper
NM_022130.4
p.E96A
c.287A>C
1 paper
NM_022130.4
p.E96K
c.286G>A
1 paper
NM_022130.4
p.L94I
c.280T>A
1 paper
NM_022130.4
p.R112R
c.336T>G
1 paper
NM_022130.4
p.K113Q
c.337A>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."