Varaico: Literature-Extracted Genetic Variants

Gene:PKM
Variant:p.A402V

PKM

313 papers

RefSeq Summary

This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruv...

Pfam Domains

PKaa 116–449UCSCPyruvate kinase, barrel domain
PK_Caa 484–602UCSCPyruvate kinase, alpha/beta domain

Gene Aliases

HGNC Name

pyruvate kinase M1/2

HGNC Previous Symbol

PKM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002654.6
p.A402V
c.1205C>T
Surrounding Variants
2 papers
NM_002654.6
p.A402T
c.1204G>A
1 paper
NM_002654.6
p.P403S
c.1207C>T
2 papers
NM_002654.6
p.P403A
c.1207C>G
1 paper
NM_002654.6
p.R400H
c.1199G>A
2 papers
NM_002654.6
p.T405A
c.1213A>G
1 paper
NM_002654.6
p.D407N
c.1219G>A
1 paper
NM_002654.6
p.D407G
c.1220A>G
1 paper
NM_002654.6
p.E397A
c.1190A>C
1 paper
NM_002654.6
p.P408A
c.1222C>G
1 paper
NM_002654.6
p.P408L
c.1223C>T
1 paper
NM_002654.6
p.L394_F395del2
c.1180_1184del6
1 paper
NM_002654.6
p.E410K
c.1228G>A
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