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.A306Splc

c.917-1713A>C

Surrounding Variants

1 paper

NM_201628.3

p.A306Splc

c.916+1793G>T

1 paper

NM_201628.3

p.V319L

c.955G>C

1 paper

NM_201628.3

p.E327K

c.979G>A

1 paper

NM_201628.3

p.S339F

c.1016C>T

1 paper

NM_201628.3

p.R304P

c.911G>C

1 paper

NM_201628.3

p.S296L

c.887C>T

1 paper

NM_201628.3

p.T266M

c.797C>T

1 paper

NM_201628.3

p.E265V

c.794A>T

1 paper

NM_201628.3

p.P255A

c.763C>G

1 paper

NM_201628.3

p.A243V

c.728C>T

1 paper

NM_201628.3

p.R376Q

c.1127G>A

1 paper

NM_201628.3

p.F385S

c.1154T>C