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

1 paper

NM_021248.3

p.R537H

c.1610G>A

Surrounding Variants

2 papers

NM_021248.3

p.R533H

c.1598G>A

1 paper

NM_021248.3

p.D552A

c.1655A>C

1 paper

NM_021248.3

p.Q515_L516Splc

c.1545+6C>T

1 paper

NM_021248.3

p.P502H

c.1505C>A

1 paper

NM_021248.3

p.R482W

c.1444C>T

1 paper

NM_021248.3

p.D475Splc

c.1424-64G>C

1 paper

NM_021248.3

p.D555Splc

c.1664-1150C>T

1 paper

NM_021248.3

p.A558T

c.1672G>A

1 paper

NM_021248.3

p.Q572R

c.1715A>G

1 paper

NM_021248.3

p.Q572Q

c.1716G>A

1 paper

NM_021248.3

p.G585G

c.1755G>T

1 paper

NM_021248.3

p.R598H

c.1793G>A