Varaico: Literature-Extracted Genetic Variants

Gene:NAGK
Variant:p.Y331C

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.Y331C
c.992A>G
Surrounding Variants
1 paper
NM_017567.6
p.D330A
c.989A>C
1 paper
NM_017567.6
p.A333T
c.997G>A
1 paper
NM_017567.6
p.H325Y
c.973C>T
1 paper
NM_017567.6
p.G324R
c.970G>A
1 paper
NM_017567.6
p.G324R
c.970G>C
1 paper
NM_017567.6
p.Y339F
c.1016A>T
1 paper
NM_017567.6
p.S340A
c.1018T>G
1 paper
NM_017567.6
p.T342S
c.1024A>T
1 paper
NM_017567.6
p.T342S
c.1025C>G
1 paper
NM_017567.6
p.T342I
c.1025C>T
1 paper
NM_017567.6
p.L318V
c.952C>G
1 paper
NM_017567.6
p.A312T
c.934G>A
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