Varaico: Literature-Extracted Genetic Variants

Gene:NPL
Variant:p.K117K

NPL

45 papers

RefSeq Summary

This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (siali...

Pfam Domains

DHDPSaa 7–303UCSCDihydrodipicolinate synthetase family

Gene Aliases

HGNC Name

N-acetylneuraminate pyruvate lyase

HGNC Previous Symbol

C1orf13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030769.3
p.K117K
c.351G>A
Surrounding Variants
1 paper
NM_030769.3
p.F115L
c.345C>A
1 paper
NM_030769.3
p.F115L
c.345C>G
1 paper
NM_030769.3
p.T120I
c.359C>T
1 paper
NM_030769.3
p.F115L
c.343T>C
1 paper
NM_030769.3
p.D122H
c.364G>C
1 paper
NM_030769.3
p.D122Splc
c.364+1G>A
1 paper
NM_030769.3
p.G107C
c.319G>T
1 paper
NM_030769.3
p.I103T
c.308T>C
1 paper
NM_030769.3
p.L124M
c.370C>A
1 paper
NM_030769.3
p.E130insFs
c.389dupA
1 paper
NM_030769.3
p.P139_Y142delFs
c.416_426del11
1 paper
NM_030769.3
p.P146T
c.436C>A
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