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

1 paper

NM_201628.3

p.R553W

c.1657C>T

Surrounding Variants

1 paper

NM_201628.3

p.M554T

c.1661T>C

1 paper

NM_201628.3

p.R561Q

c.1682G>A

2 papers

NM_201628.3

p.E522D

c.1566G>C

2 papers

NM_201628.3

p.E522D

c.1566G>T

2 papers

NM_201628.3

p.T604M

c.1811C>T

1 paper

NM_201628.3

p.T604T

c.1812G>A

1 paper

NM_201628.3

p.R616W

c.1846C>T

1 paper

NM_201628.3

p.D631delFs

c.1891_1892delGA

1 paper

NM_201628.3

p.S636R

c.1906A>C

1 paper

NM_201628.3

p.S636R

c.1908C>A

1 paper

NM_201628.3

p.S636R

c.1908C>G

1 paper

NM_201628.3

p.G637G

c.1911C>T