Varaico: Literature-Extracted Genetic Variants

Gene:NXPH1
Variant:p.C194S

NXPH1

21 papers

RefSeq Summary

This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cyst...

Pfam Domains

Neurexophilinaa 63–271UCSCNeurexophilin

Gene Aliases

HGNC Name

neurexophilin 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152745.3
p.C194S
c.581G>C
Surrounding Variants
1 paper
NM_152745.3
p.C194S
c.580T>A
1 paper
NM_152745.3
p.S189S
c.567C>A
1 paper
NM_152745.3
p.A186G
c.557C>G
1 paper
NM_152745.3
p.C210S
c.628T>A
1 paper
NM_152745.3
p.C210S
c.629G>C
1 paper
NM_152745.3
p.S215L
c.644C>T
1 paper
NM_152745.3
p.C218S
c.652T>A
1 paper
NM_152745.3
p.C218S
c.653G>C
1 paper
NM_152745.3
p.S225C
c.673A>T
1 paper
NM_152745.3
p.N162D
c.484A>G
1 paper
NM_152745.3
p.S157S
c.471A>C
1 paper
NM_152745.3
p.C231S
c.691T>A
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