Varaico: Literature-Extracted Genetic Variants

KAZN

88 papers

RefSeq Summary

This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolin...

Pfam Domains

Kazrinaa 66–250UCSCKazrin domain

SAM_1aa 444–509UCSCSAM domain (Sterile alpha motif)

SAM_1aa 523–585UCSCSAM domain (Sterile alpha motif)

SAM_2aa 609–670UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

kazrin, periplakin interacting protein

HGNC Previous Symbol

C1orf196

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_201628.3

p.V703I

c.2107G>A

Surrounding Variants

2 papers

NM_201628.3

p.S702I

c.2105G>T

5 papers

NM_201628.3

p.A706T

c.2116G>A

1 paper

NM_201628.3

p.G714C

c.2140G>T

1 paper

NM_201628.3

p.A719V

c.2156C>T

1 paper

NM_201628.3

p.D749V

c.2246A>T

1 paper

NM_201628.3

p.C750*

c.2250C>A

1 paper

NM_201628.3

p.R763C

c.2287C>T

1 paper

NM_201628.3

p.N683Splc

c.2048+3978G>A

1 paper

NM_201628.3

p.A655T

c.1963G>A

1 paper

NM_201628.3

p.V638I

c.1912G>A

1 paper

NM_201628.3

p.G637G

c.1911C>T

1 paper

NM_201628.3

p.S636R

c.1908C>A