Varaico: Literature-Extracted Genetic Variants

Gene:NXPE1

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
1–12 of 23 variants
1 paper
NM_001395504.1
p.T10M
c.29C>T
1 paper
NM_001395504.1
p.M23V
c.67A>G
1 paper
NM_001395504.1
p.L40S
c.119T>C
1 paper
NM_001395504.1
p.V44L
c.130G>C
1 paper
NM_001395504.1
p.L192F
c.574C>T
1 paper
NM_001395504.1
p.L224V
c.670C>G
1 paper
NM_001395504.1
p.V281A
c.842T>C
1 paper
NM_001395504.1
p.I292M
c.876T>G
1 paper
NM_001395504.1
p.G310*
c.928G>T
1 paper
NM_001395504.1
p.V315L
c.943G>C
1 paper
NM_001395504.1
p.K347N
c.1041A>T
1 paper
NM_001395504.1
p.K347N
c.1041A>C
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