Varaico: Literature-Extracted Genetic Variants

Gene:GLYCTK
Variant:p.D62V

GLYCTK

56 papers

RefSeq Summary

This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. ...

Pfam Domains

DUF4147aa 37–289UCSCDomain of unknown function (DUF4147)
MOFRLaa 402–514UCSCMOFRL family

Gene Aliases

HGNC Name

glycerate kinase

HGNC Alias Symbols

HBEBP4; HBEBP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145262.4
p.D62V
c.185A>T
Surrounding Variants
1 paper
NM_145262.4
p.A58T
c.172G>A
1 paper
NM_145262.4
p.R73W
c.217C>T
1 paper
NM_145262.4
p.G92C
c.274G>T
1 paper
NM_145262.4
p.M32K
c.95T>A
1 paper
NM_145262.4
p.S31T
c.92G>C
1 paper
NM_145262.4
p.E98K
c.292G>A
1 paper
NM_145262.4
p.A26insFs
c.76_77insT
1 paper
NM_145262.4
p.S24L
c.71C>T
1 paper
NM_145262.4
p.G102S
c.304G>A
1 paper
NM_145262.4
p.P113S
c.337C>T
1 paper
NM_145262.4
p.R122C
c.364C>T
2 papers
NM_145262.4
p.M128I
c.384G>A
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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."