Varaico: Literature-Extracted Genetic Variants

Gene:PM20D1
Variant:p.H84R

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
3 papers
NM_152491.5
p.H84R
c.251A>G
Surrounding Variants
2 papers
NM_152491.5
p.E46K
c.136G>A
1 paper
NM_152491.5
p.F43F
c.129C>T
1 paper
NM_152491.5
p.F43I
c.127T>A
1 paper
NM_152491.5
p.S41C
c.122C>G
1 paper
NM_152491.5
p.I39N
c.116T>A
1 paper
NM_152491.5
p.H33Y
c.97C>T
1 paper
NM_152491.5
p.S25*
c.74C>A
1 paper
NM_152491.5
p.M14V
c.40A>G
1 paper
NM_152491.5
p.R4W
c.10C>T
1 paper
NM_152491.5
p.R4R
c.10C>A
1 paper
NM_152491.5
p.Y120*
c.360C>G
1 paper
NM_152491.5
p.Y120*
c.360C>A
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