Varaico: Literature-Extracted Genetic Variants

Gene:PM20D2
Variant:p.E69Q

PM20D2

20 papers

Pfam Domains

Peptidase_M20aa 109–396UCSCPeptidase family M20/M25/M40
M20_dimeraa 204–301UCSCPeptidase dimerisation domain

Gene Aliases

HGNC Name

peptidase M20 domain containing 2

HGNC Previous Symbol

ACY1L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001010853.3
p.E69Q
c.205G>C
Surrounding Variants
1 paper
NM_001010853.3
p.E36Q
c.106G>C
1 paper
NM_001010853.3
p.H107P
c.320A>C
1 paper
NM_001010853.3
p.C30G
c.88T>G
1 paper
NM_001010853.3
p.Y114C
c.341A>G
1 paper
NM_001010853.3
p.A116E
c.347C>A
1 paper
NM_001010853.3
p.R2insFs
c.6dupG
1 paper
NM_001010853.3
p.A143S
c.427G>T
1 paper
NM_001010853.3
p.K155_V156Splc
c.466-7C>T
1 paper
NM_001010853.3
p.V158A
c.473T>C
1 paper
NM_001010853.3
p.L182V
c.544C>G
1 paper
NM_001010853.3
p.E193D
c.579G>C
1 paper
NM_001010853.3
p.E193D
c.579G>T
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