Varaico: Literature-Extracted Genetic Variants

Gene:NXPE2
Variant:p.D249E

NXPE2

47 papers

Pfam Domains

Neurexophilinaa 92–281UCSCNeurexophilin
NXPE4_Caa 336–559UCSCNXPE family member 4-like, C-terminal domain

Gene Aliases

HGNC Name

neurexophilin and PC-esterase domain family member 2

HGNC Previous Symbol

FAM55B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182495.6
p.D249E
c.747C>G
Surrounding Variants
1 paper
NM_182495.6
p.D249E
c.747C>A
1 paper
NM_182495.6
p.A252S
c.754G>T
1 paper
NM_182495.6
p.C263*
c.789T>A
1 paper
NM_182495.6
p.C231F
c.692G>T
3 papers
NM_182495.6
p.T271A
c.811A>G
1 paper
NM_182495.6
p.R289W
c.865A>T
1 paper
NM_182495.6
p.W204R
c.610T>A
1 paper
NM_182495.6
p.W204R
c.610T>C
1 paper
NM_182495.6
p.V200G
c.599T>G
3 papers
NM_182495.6
p.H195Q
c.585C>A
3 papers
NM_182495.6
p.H195Q
c.585C>G
1 paper
NM_182495.6
p.Q186K
c.556C>A
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