Varaico: Literature-Extracted Genetic Variants

Gene:PGAM4
Variant:p.R46R

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.R46R
c.138A>C
Surrounding Variants
1 paper
NM_001029891.3
p.R46Q
c.137G>A
1 paper
NM_001029891.3
p.A48V
c.143C>T
1 paper
NM_001029891.3
p.E37E
c.111G>A
1 paper
NM_001029891.3
p.L56L
c.168C>A
1 paper
NM_001029891.3
p.K61N
c.183G>C
1 paper
NM_001029891.3
p.L30P
c.89T>C
4 papers
NM_001029891.3
p.W25C
c.75G>T
5 papers
NM_001029891.3
p.W25C
c.75G>C
2 papers
NM_001029891.3
p.D75N
c.223G>A
1 paper
NM_001029891.3
p.W78*
c.233G>A
1 paper
NM_001029891.3
p.W78*
c.234G>A
1 paper
NM_001029891.3
p.R10Q
c.29G>A
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