Varaico: Literature-Extracted Genetic Variants

Gene:CDH22
Variant:p.D603N

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.D603N
c.1807G>A
Surrounding Variants
1 paper
NM_021248.3
p.R598H
c.1793G>A
1 paper
NM_021248.3
p.Q609H
c.1827G>T
1 paper
NM_021248.3
p.Q609H
c.1827G>C
1 paper
NM_021248.3
p.G585G
c.1755G>T
1 paper
NM_021248.3
p.P624P
c.1872C>T
1 paper
NM_021248.3
p.A629T
c.1885G>A
1 paper
NM_021248.3
p.Q572Q
c.1716G>A
1 paper
NM_021248.3
p.Q572R
c.1715A>G
1 paper
NM_021248.3
p.L637V
c.1909C>G
1 paper
NM_021248.3
p.A558T
c.1672G>A
1 paper
NM_021248.3
p.D555Splc
c.1664-1150C>T
1 paper
NM_021248.3
p.L642L
c.1926G>T
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