Varaico: Literature-Extracted Genetic Variants

Gene:NAGK

NAGK

54 papers

RefSeq Summary

This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mamma...

Pfam Domains

BcrAD_BadFGaa 4–234UCSCBadF/BadG/BcrA/BcrD ATPase family

Gene Aliases

HGNC Name

N-acetylglucosamine kinase

HGNC Alias Symbol

GNK

Papers
RefSeq ID
Protein change
DNA change
1–12 of 255 variants
4 papers
NM_017567.6
p.I86N
c.257T>A
3 papers
NM_017567.6
p.I86T
c.257T>C
3 papers
NM_017567.6
p.G290A
c.869G>C
2 papers
NM_017567.6
p.R14Q
c.41G>A
2 papers
NM_017567.6
p.D23A
c.68A>C
2 papers
NM_017567.6
p.G41A
c.122G>C
2 papers
NM_017567.6
p.D107A
c.320A>C
2 papers
NM_017567.6
p.C143S
c.427T>A
2 papers
NM_017567.6
p.C143S
c.428G>C
2 papers
NM_017567.6
p.E153K
c.457G>A
2 papers
NM_017567.6
p.N173H
c.517A>C
2 papers
NM_017567.6
p.R218W
c.652C>T
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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."