Varaico: Literature-Extracted Genetic Variants

Gene:PNN
Variant:p.E99D

PNN

78 papers

Pfam Domains

Pinin_SDK_Naa 1–132UCSCpinin/SDK conserved region
Pinin_SDK_memAaa 136–261UCSCpinin/SDK/memA/ protein conserved region

Gene Aliases

HGNC Name

pinin, desmosome associated protein

HGNC Alias Symbol

memA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002687.4
p.E99D
c.297A>C
Surrounding Variants
1 paper
NM_002687.4
p.E99D
c.297A>T
1 paper
NM_002687.4
p.E99G
c.296A>G
1 paper
NM_002687.4
p.S100C
c.298A>T
1 paper
NM_002687.4
p.R93G
c.277A>G
1 paper
NM_002687.4
p.K109M
c.326A>T
1 paper
NM_002687.4
p.E89Q
c.265G>C
1 paper
NM_002687.4
p.R123H
c.368G>A
1 paper
NM_002687.4
p.K139R
c.416A>G
1 paper
NM_002687.4
p.N142I
c.425A>T
1 paper
NM_002687.4
p.L149F
c.447G>C
1 paper
NM_002687.4
p.L149F
c.447G>T
1 paper
NM_002687.4
p.K155R
c.464A>G
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