Varaico: Literature-Extracted Genetic Variants

Gene:NPL
Variant:p.M1delFs

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.M1delFs
c.2delT
Surrounding Variants
1 paper
NM_030769.3
p.A2delins
c.5delinsATGG
1 paper
NM_030769.3
p.T17M
c.50C>T
1 paper
NM_030769.3
p.T17T
c.51G>A
1 paper
NM_030769.3
p.T20N
c.59C>A
1 paper
NM_030769.3
p.G31delFs
c.92delG
1 paper
NM_030769.3
p.G31fs
c.91_92fs
1 paper
NM_030769.3
p.G42E
c.125G>A
8 papers
NM_030769.3
p.N45D
c.133A>G
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