Varaico: Literature-Extracted Genetic Variants

Gene:NXPE1
Variant:p.N540H

NXPE1

20 papers

Pfam Domains

Neurexophilinaa 77–278UCSCNeurexophilin
Neurexophilinaa 77–278UCSCNeurexophilin
NXPE4_Caa 325–547UCSCNXPE family member 4-like, C-terminal domain

Gene Aliases

HGNC Name

neurexophilin and PC-esterase domain family member 1

HGNC Previous Symbol

FAM55A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001395504.1
p.N540H
c.1618A>C
Surrounding Variants
1 paper
NM_001395504.1
p.D526A
c.1577A>C
1 paper
NM_001395504.1
p.F493I
c.1477T>A
1 paper
NM_001395504.1
p.Y403*
c.1209T>G
1 paper
NM_001395504.1
p.Y403*
c.1209T>A
1 paper
NM_001395504.1
p.S355A
c.1063T>G
1 paper
NM_001395504.1
p.G353V
c.1058G>T
2 papers
NM_001395504.1
p.G353R
c.1057G>C
NM_152315.5
p.G211R
c.631G>C
2 papers
NM_001395504.1
p.G353R
c.1057G>A
NM_152315.5
p.G211R
c.631G>A
1 paper
NM_001395504.1
p.K347N
c.1041A>T
1 paper
NM_001395504.1
p.K347N
c.1041A>C
1 paper
NM_001395504.1
p.V315L
c.943G>C
1 paper
NM_001395504.1
p.G310*
c.928G>T
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