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.A140Splc

c.419-323T>C

Surrounding Variants

1 paper

NM_201628.3

p.A140Splc

c.419-644T>C

1 paper

NM_201628.3

p.R145Q

c.434G>A

1 paper

NM_201628.3

p.R145P

c.434G>C

1 paper

NM_201628.3

p.G150C

c.448G>T

1 paper

NM_201628.3

p.R169C

c.505C>T

1 paper

NM_201628.3

p.R178C

c.532C>T

1 paper

NM_201628.3

p.A140Splc

c.419-7556T>A

1 paper

NM_201628.3

p.K185_E186Splc

c.556-124A>G

1 paper

NM_201628.3

p.R203H

c.608G>A

1 paper

NM_201628.3

p.R209Q

c.626G>A

1 paper

NM_201628.3

p.A212P

c.634G>C

2 papers

NM_201628.3

p.T220M

c.659C>T