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.E128_Q129insAGG

c.382_386ins9

Surrounding Variants

1 paper

NM_201628.3

p.S116L

c.347C>T

1 paper

NM_201628.3

p.Q139Q

c.417G>A

1 paper

NM_201628.3

p.A100V

c.299C>T

1 paper

NM_201628.3

p.E88D

c.264A>C

1 paper

NM_201628.3

p.E88D

c.264A>T

1 paper

NM_201628.3

p.R79Q

c.236G>A

1 paper

NM_201628.3

p.V76Splc

c.227-3088G>A