Varaico: Literature-Extracted Genetic Variants

Gene:PXDNL
Variant:p.T1050fs

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.T1050fs
c.3148_3149fs
Surrounding Variants
1 paper
NM_144651.5
p.I1044L
c.3130A>C
1 paper
NM_144651.5
p.R1066Q
c.3197G>A
1 paper
NM_144651.5
p.R1034*
c.3100C>T
1 paper
NM_144651.5
p.R1028T
c.3083G>C
2 papers
NM_144651.5
p.P1080P
c.3240G>A
1 paper
NM_144651.5
p.F1086L
c.3256T>C
1 paper
NM_144651.5
p.F1086L
c.3258T>G
1 paper
NM_144651.5
p.F1086L
c.3258T>A
1 paper
NM_144651.5
p.P1088L
c.3263C>T
1 paper
NM_144651.5
p.S1089F
c.3266C>T
1 paper
NM_144651.5
p.K1093N
c.3279G>T
1 paper
NM_144651.5
p.K1093N
c.3279G>C
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