Varaico: Literature-Extracted Genetic Variants

Gene:NAGK
Variant:p.L287P

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
Selected Variant
1 paper
NM_017567.6
p.L287P
c.860T>C
Surrounding Variants
1 paper
NM_017567.6
p.A286V
c.857C>T
1 paper
NM_017567.6
p.L285P
c.854T>C
1 paper
NM_017567.6
p.G290D
c.869G>A
3 papers
NM_017567.6
p.G290A
c.869G>C
1 paper
NM_017567.6
p.I293F
c.877A>T
1 paper
NM_017567.6
p.I293T
c.878T>C
1 paper
NM_017567.6
p.N297K
c.891C>G
1 paper
NM_017567.6
p.F298I
c.892T>A
1 paper
NM_017567.6
p.F299L
c.895T>C
1 paper
NM_017567.6
p.F299L
c.897C>A
1 paper
NM_017567.6
p.F299L
c.897C>G
1 paper
NM_017567.6
p.S300Y
c.899C>A
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