Varaico: Literature-Extracted Genetic Variants

Gene:PM20D1
Variant:p.I149V

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
7 papers
NM_152491.5
p.I149V
c.445A>G
Surrounding Variants
5 papers
NM_152491.5
p.R153W
c.457C>T
1 paper
NM_152491.5
p.G143A
c.428G>C
1 paper
NM_152491.5
p.V138E
c.413T>A
1 paper
NM_152491.5
p.E137E
c.411G>A
1 paper
NM_152491.5
p.Y120*
c.360C>G
1 paper
NM_152491.5
p.Y120*
c.360C>A
2 papers
NM_152491.5
p.I174F
c.520A>T
1 paper
NM_152491.5
p.Y177*
c.531C>G
1 paper
NM_152491.5
p.Y177*
c.531C>A
1 paper
NM_152491.5
p.D190H
c.568G>C
1 paper
NM_152491.5
p.D217D
c.651C>T
1 paper
NM_152491.5
p.G220fs
c.658_659fs
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