Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3

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
1–12 of 177 variants
6 papers
NM_022130.4
p.R90L
c.269G>T
5 papers
NM_022130.4
p.D130A
c.389A>C
4 papers
NM_022130.4
p.L177I
c.529T>A
3 papers
NM_022130.4
p.M1T
c.2T>C
3 papers
NM_022130.4
p.S8delFs
c.23delC
3 papers
NM_022130.4
p.G30insFs
c.89_90insG
3 papers
NM_022130.4
p.L103I
c.307T>A
3 papers
NM_022130.4
p.G109R
c.325G>A
3 papers
NM_022130.4
p.G158Splc
c.472+1G>A
2 papers
NM_022130.4
p.L4Q
c.11T>A
2 papers
NM_022130.4
p.L11_V12insFs
c.33_34ins4
2 papers
NM_022130.4
p.E26K
c.76G>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."