Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.L155F

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.L155F
c.465A>C
Surrounding Variants
1 paper
NM_022130.4
p.L155F
c.465A>T
1 paper
NM_022130.4
p.L155V
c.463T>G
1 paper
NM_022130.4
p.L156P
c.467T>C
3 papers
NM_022130.4
p.G158Splc
c.472+1G>A
1 paper
NM_022130.4
p.W152*
c.455G>A
1 paper
NM_022130.4
p.T148M
c.443C>T
1 paper
NM_022130.4
p.K138T
c.413A>C
1 paper
NM_022130.4
p.L137L
c.409C>T
2 papers
NM_022130.4
p.A136D
c.407C>A
1 paper
NM_022130.4
p.D134A
c.401A>C
5 papers
NM_022130.4
p.D130A
c.389A>C
2 papers
NM_022130.4
p.D125_A126insFs
c.375_376insGA
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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."