Varaico: Literature-Extracted Genetic Variants

Gene:PNN
Variant:p.K681N

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.K681N
c.2043G>C
Surrounding Variants
1 paper
NM_002687.4
p.K681N
c.2043G>T
1 paper
NM_002687.4
p.D680G
c.2039A>G
1 paper
NM_002687.4
p.R684L
c.2051G>T
4 papers
NM_002687.4
p.S671G
c.2011A>G
1 paper
NM_002687.4
p.G670S
c.2008G>A
1 paper
NM_002687.4
p.E705K
c.2113G>A
1 paper
NM_002687.4
p.T657S
c.1970C>G
1 paper
NM_002687.4
p.T657S
c.1969A>T
1 paper
NM_002687.4
p.R638Q
c.1913G>A
1 paper
NM_002687.4
p.S611C
c.1832C>G
2 papers
NM_002687.4
p.H549P
c.1646A>C
1 paper
NM_002687.4
p.F530S
c.1589T>C
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