Varaico: Literature-Extracted Genetic Variants

Gene:PGAM4
Variant:p.Q191R

PGAM4

27 papers

RefSeq Summary

This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase f...

Pfam Domains

His_Phos_1aa 6–138UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

phosphoglycerate mutase family member 4

HGNC Alias Symbols

dJ1000K24.1; PGAM3; PGAM-B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029891.3
p.Q191R
c.572A>G
Surrounding Variants
2 papers
NM_001029891.3
p.R180H
c.539G>A
1 paper
NM_001029891.3
p.R180C
c.538C>T
1 paper
NM_001029891.3
p.G178fs
c.532_533fs
1 paper
NM_001029891.3
p.P211T
c.631C>A
1 paper
NM_001029891.3
p.F166F
c.498C>T
1 paper
NM_001029891.3
p.N223H
c.667A>C
2 papers
NM_001029891.3
p.Y153C
c.458A>G
1 paper
NM_001029891.3
p.D148H
c.442G>C
2 papers
NM_001029891.3
p.R86H
c.257G>A
1 paper
NM_001029891.3
p.W78*
c.234G>A
1 paper
NM_001029891.3
p.W78*
c.233G>A
2 papers
NM_001029891.3
p.D75N
c.223G>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."