Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.T265delFs

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
2 papers
NM_022130.4
p.T265delFs
c.795delG
Surrounding Variants
1 paper
NM_022130.4
p.T265I
c.794C>T
1 paper
NM_022130.4
p.D262E
c.786T>A
1 paper
NM_022130.4
p.R269L
c.806G>T
2 papers
NM_022130.4
p.R269Q
c.806G>A
1 paper
NM_022130.4
p.D262G
c.785A>G
1 paper
NM_022130.4
p.Q270*
c.808C>T
1 paper
NM_022130.4
p.L272P
c.815T>C
1 paper
NM_022130.4
p.E259A
c.776A>C
1 paper
NM_022130.4
p.D273N
c.817G>A
1 paper
NM_022130.4
p.E279A
c.836A>C
1 paper
NM_022130.4
p.A252V
c.755C>T
2 papers
NM_022130.4
p.A252D
c.755C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."