Varaico: Literature-Extracted Genetic Variants

Gene:PNN
Variant:p.H549P

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
2 papers
NM_002687.4
p.H549P
c.1646A>C
Surrounding Variants
1 paper
NM_002687.4
p.F530S
c.1589T>C
1 paper
NM_002687.4
p.E526K
c.1576G>A
2 papers
NM_002687.4
p.V509L
c.1525G>C
1 paper
NM_002687.4
p.S611C
c.1832C>G
1 paper
NM_002687.4
p.Q475_Q477del3
c.1423_1430del9
1 paper
NM_002687.4
p.A474_P476del0
c.1421_1426del6
1 paper
NM_002687.4
p.A474_P476del3
c.1420_1427del9
1 paper
NM_002687.4
p.Q469H
c.1407A>C
1 paper
NM_002687.4
p.Q469H
c.1407A>T
2 papers
NM_002687.4
p.E463Q
c.1387G>C
1 paper
NM_002687.4
p.R638Q
c.1913G>A
2 papers
NM_002687.4
p.S450G
c.1348A>G
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