Varaico: Literature-Extracted Genetic Variants

Gene:PM20D1
Variant:p.M248T

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
2 papers
NM_152491.5
p.M248T
c.743T>C
Surrounding Variants
3 papers
NM_152491.5
p.I237T
c.710T>C
1 paper
NM_152491.5
p.L236Splc
c.708-1G>A
1 paper
NM_152491.5
p.G220fs
c.658_659fs
1 paper
NM_152491.5
p.D217D
c.651C>T
1 paper
NM_152491.5
p.R276Q
c.827G>A
1 paper
NM_152491.5
p.P281insFs
c.841_842insAC
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.S288S
c.864C>T
1 paper
NM_152491.5
p.D190H
c.568G>C
1 paper
NM_152491.5
p.Y177*
c.531C>G
1 paper
NM_152491.5
p.Y177*
c.531C>A
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