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.Q7*

c.19C>T

Surrounding Variants

1 paper

NM_201628.3

p.R11_I12delFs

c.32_36del5

1 paper

NM_201628.3

p.A15T

c.43G>A

1 paper

NM_201628.3

p.S20ins9

c.59_60ins27

1 paper

NM_201628.3

p.A32_R36del5

c.94_107del15

1 paper

NM_201628.3

p.G42_S57delFs

c.126_169del44

2 papers

NM_201628.3

p.G43ins1

c.128_129insAGG

1 paper

NM_201628.3

p.P46fs

c.136_137fs

4 papers

NM_201628.3

p.P48S

c.142C>T

1 paper

NM_201628.3

p.G51G

c.153A>T

1 paper

NM_201628.3

p.A54T

c.160G>A

1 paper

NM_201628.3

p.T65M

c.194C>T

1 paper

NM_201628.3

p.V76Splc

c.226+1234G>A