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

1–12 of 104 variants

3 papers

NM_021248.3

p.S714A

c.2140T>G

2 papers

NM_021248.3

p.L21del1

c.61_63delCAG

2 papers

NM_021248.3

p.G53R

c.157G>C

2 papers

NM_021248.3

p.E92K

c.274G>A

2 papers

NM_021248.3

p.R533H

c.1598G>A

2 papers

NM_021248.3

p.G713_S714del1

c.2139_2141delGAG

2 papers

NM_021248.3

p.S714del1

c.2140_2141delCGA

1 paper

NM_021248.3

p.G9G

c.27G>A

1 paper

NM_021248.3

p.V14fs

c.40_41fs

1 paper

NM_021248.3

p.L36Q

c.107T>A

1 paper

NM_021248.3

p.W37R

c.109T>C

1 paper

NM_021248.3

p.W37R

c.109T>A