Varaico: Literature-Extracted Genetic Variants

Gene:PGAM4

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
1–12 of 24 variants
5 papers
NM_001029891.3
p.W25C
c.75G>C
4 papers
NM_001029891.3
p.W25C
c.75G>T
2 papers
NM_001029891.3
p.D75N
c.223G>A
2 papers
NM_001029891.3
p.R86H
c.257G>A
2 papers
NM_001029891.3
p.Y153C
c.458A>G
2 papers
NM_001029891.3
p.R180H
c.539G>A
1 paper
NM_001029891.3
p.A3T
c.7G>A
1 paper
NM_001029891.3
p.R10Q
c.29G>A
1 paper
NM_001029891.3
p.L30P
c.89T>C
1 paper
NM_001029891.3
p.E37E
c.111G>A
1 paper
NM_001029891.3
p.R46Q
c.137G>A
1 paper
NM_001029891.3
p.R46R
c.138A>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."