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.P442L

c.1325C>T

Surrounding Variants

1 paper

NM_201628.3

p.P442S

c.1324C>T

1 paper

NM_201628.3

p.K447N

c.1341G>C

1 paper

NM_201628.3

p.K447N

c.1341G>T

2 papers

NM_201628.3

p.V451I

c.1351G>A

1 paper

NM_201628.3

p.T469M

c.1406C>T

1 paper

NM_201628.3

p.S409L

c.1226C>T

1 paper

NM_201628.3

p.L481M

c.1441C>A

1 paper

NM_201628.3

p.V492L

c.1474G>C

1 paper

NM_201628.3

p.V492L

c.1474G>T

1 paper

NM_201628.3

p.R502R

c.1506C>T

1 paper

NM_201628.3

p.G514C

c.1540G>T

2 papers

NM_201628.3

p.E522D

c.1566G>C