Varaico: Literature-Extracted Genetic Variants

Gene:PNN
Variant:p.K280Q

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.K280Q
c.838A>C
Surrounding Variants
1 paper
NM_002687.4
p.K280R
c.839A>G
1 paper
NM_002687.4
p.N279K
c.837T>A
1 paper
NM_002687.4
p.N279K
c.837T>G
1 paper
NM_002687.4
p.K280N
c.840A>C
1 paper
NM_002687.4
p.K280N
c.840A>T
1 paper
NM_002687.4
p.M290V
c.868A>G
1 paper
NM_002687.4
p.K304T
c.911A>C
1 paper
NM_002687.4
p.K304R
c.911A>G
2 papers
NM_002687.4
p.A305V
c.914C>T
1 paper
NM_002687.4
p.E306K
c.916G>A
1 paper
NM_002687.4
p.K311N
c.933G>C
1 paper
NM_002687.4
p.K311N
c.933G>T
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