Varaico: Literature-Extracted Genetic Variants

Gene:NPL
Variant:p.V200M

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.V200M
c.598G>A
Surrounding Variants
1 paper
NM_030769.3
p.G199ins2
c.596_597ins6
2 papers
NM_030769.3
p.E202_Q203Splc
c.606+1G>A
1 paper
NM_030769.3
p.N189I
c.566A>T
1 paper
NM_030769.3
p.Q188*
c.562C>T
1 paper
NM_030769.3
p.L180ins2
c.539_540ins6
1 paper
NM_030769.3
p.L159insFs
c.476dupT
1 paper
NM_030769.3
p.E157V
c.470A>T
2 papers
NM_030769.3
p.E156A
c.467A>C
1 paper
NM_030769.3
p.V209V
c.627G>T
1 paper
NM_030769.3
p.A147A
c.441C>A
1 paper
NM_030769.3
p.A147D
c.440C>A
1 paper
NM_030769.3
p.P146T
c.436C>A
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