Varaico: Literature-Extracted Genetic Variants

Gene:PXDNL
Variant:p.C305delFs

PXDNL

236 papers

Pfam Domains

LRR_8aa 50–110UCSCLeucine rich repeat
LRR_8aa 74–134UCSCLeucine rich repeat
LRR_8aa 122–182UCSCLeucine rich repeat
I-setaa 234–321UCSCImmunoglobulin I-set domain
Ig_3aa 329–402UCSCImmunoglobulin domain
I-setaa 419–505UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

peroxidasin like

HGNC Alias Symbols

FLJ25471; PMR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144651.5
p.C305delFs
c.913delA
Surrounding Variants
2 papers
NM_144651.5
p.C305fs
c.913_914fs
1 paper
NM_144651.5
p.Q304*
c.910C>T
1 paper
NM_144651.5
p.Y303delFs
c.908delT
1 paper
NM_144651.5
p.A311T
c.931G>A
1 paper
NM_144651.5
p.I292F
c.874A>T
1 paper
NM_144651.5
p.A319S
c.955G>T
2 papers
NM_144651.5
p.D286V
c.857A>T
1 paper
NM_144651.5
p.L282L
c.846T>A
1 paper
NM_144651.5
p.L282H
c.845T>A
1 paper
NM_144651.5
p.D279N
c.835G>A
1 paper
NM_144651.5
p.L276M
c.826T>A
1 paper
NM_144651.5
p.D275N
c.823G>A
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