Varaico: Literature-Extracted Genetic Variants

Gene:PXMP2
Variant:p.A118T

PXMP2

17 papers

Pfam Domains

Mpv17_PMP22aa 130–191UCSCMpv17 / PMP22 family

Gene Aliases

HGNC Name

peroxisomal membrane protein 2

HGNC Alias Symbol

MPV17L3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018663.3
p.A118T
c.352G>A
Surrounding Variants
1 paper
NM_018663.3
p.V116_A120del5
c.346_359del15
1 paper
NM_018663.3
p.E133_G134Splc
c.400-1G>A
1 paper
NM_018663.3
p.G147insFs
c.440dupG
1 paper
NM_018663.3
p.R145S
c.435G>C
1 paper
NM_018663.3
p.R145S
c.435G>T
1 paper
NM_018663.3
p.R157W
c.469C>T
1 paper
NM_018663.3
p.G79R
c.235G>A
1 paper
NM_018663.3
p.G79R
c.235G>C
1 paper
NM_018663.3
p.S41Splc
c.122+299G>T
1 paper
NM_018663.3
p.A39fs
c.115_116fs
1 paper
NM_018663.3
p.A39_T40delFs
c.116_120del5
3 papers
NM_018663.3
p.L26L
c.76C>T
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