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

1–12 of 91 variants

5 papers

NM_201628.3

p.A706T

c.2116G>A

4 papers

NM_201628.3

p.P48S

c.142C>T

2 papers

NM_201628.3

p.G43ins1

c.128_129insAGG

2 papers

NM_201628.3

p.E128_Q129insAGG

c.382_386ins9

2 papers

NM_201628.3

p.T220M

c.659C>T

2 papers

NM_201628.3

p.V451I

c.1351G>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

2 papers

NM_201628.3

p.S702I

c.2105G>T

2 papers

NM_201628.3

p.V703I

c.2107G>A

1 paper

NM_201628.3

p.Q7*

c.19C>T