Varaico: Literature-Extracted Genetic Variants

Gene:PM20D1
Variant:p.P281insFs

PM20D1

67 papers

Pfam Domains

Peptidase_M20aa 121–488UCSCPeptidase family M20/M25/M40
M20_dimeraa 239–388UCSCPeptidase dimerisation domain

Gene Aliases

HGNC Name

peptidase M20 domain containing 1

HGNC Alias Symbol

FLJ32569

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152491.5
p.P281insFs
c.841_842insAC
Surrounding Variants
2 papers
NM_152491.5
p.P281Q
c.842C>A
1 paper
NM_152491.5
p.P281fs
c.841_842fs
1 paper
NM_152491.5
p.R276Q
c.827G>A
1 paper
NM_152491.5
p.S288S
c.864C>T
1 paper
NM_152491.5
p.L310delFs
c.930delC
1 paper
NM_152491.5
p.A332V
c.995C>T
1 paper
NM_152491.5
p.K344*
c.1030A>T
1 paper
NM_152491.5
p.K344N
c.1032A>T
1 paper
NM_152491.5
p.K344N
c.1032A>C
1 paper
NM_152491.5
p.G346R
c.1036G>C
1 paper
NM_152491.5
p.G346R
c.1036G>A
2 papers
NM_152491.5
p.M248T
c.743T>C
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