Varaico: Literature-Extracted Genetic Variants

Gene:NAGK
Variant:p.S99R

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.S99R
c.295A>C
Surrounding Variants
1 paper
NM_017567.6
p.S99R
c.297T>A
1 paper
NM_017567.6
p.L98R
c.293T>G
1 paper
NM_017567.6
p.S99R
c.297T>G
1 paper
NM_017567.6
p.P96L
c.287C>T
1 paper
NM_017567.6
p.Y102*
c.306C>G
1 paper
NM_017567.6
p.I104L
c.310A>C
1 paper
NM_017567.6
p.R92K
c.275G>A
1 paper
NM_017567.6
p.T106S
c.316A>T
1 paper
NM_017567.6
p.T106S
c.317C>G
1 paper
NM_017567.6
p.L91M
c.271C>A
2 papers
NM_017567.6
p.D107A
c.320A>C
1 paper
NM_017567.6
p.E90G
c.269A>G
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