Varaico: Literature-Extracted Genetic Variants

CDH22

90 papers

RefSeq Summary

This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical c...

Pfam Domains

Cadherinaa 67–159UCSCCadherin domain

Cadherinaa 173–268UCSCCadherin domain

Cadherinaa 282–386UCSCCadherin domain

Cadherinaa 400–490UCSCCadherin domain

Cadherinaa 503–600UCSCCadherin domain

CADH_Y-type_LIRaa 758–817UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 22

HGNC Previous Symbol

C20orf25

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021248.3

p.S714del1

c.2140_2141delCGA

Surrounding Variants

2 papers

NM_021248.3

p.G713_S714del1

c.2139_2141delGAG

3 papers

NM_021248.3

p.S714A

c.2140T>G

1 paper

NM_021248.3

p.G713_G715delFs

c.2139_2145del7

1 paper

NM_021248.3

p.G713fs

c.2137_2138fs

1 paper

NM_021248.3

p.G712A

c.2135G>C

1 paper

NM_021248.3

p.A718P

c.2152G>C

1 paper

NM_021248.3

p.G708R

c.2122G>C

1 paper

NM_021248.3

p.G708R

c.2122G>A

1 paper

NM_021248.3

p.P722fs

c.2164_2165fs

1 paper

NM_021248.3

p.P722delFs

c.2165delG

1 paper

NM_021248.3

p.G707S

c.2119G>A

1 paper

NM_021248.3

p.R730L

c.2189G>T