Varaico: Literature-Extracted Genetic Variants

Gene:CDH18
Variant:p.D724N

CDH18

119 papers

RefSeq Summary

This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a...

Pfam Domains

Cadherinaa 58–150UCSCCadherin domain
Cadherinaa 164–259UCSCCadherin domain
Cadherinaa 273–374UCSCCadherin domain
Cadherinaa 388–479UCSCCadherin domain
Cadherinaa 492–589UCSCCadherin domain
CADH_Y-type_LIRaa 723–782UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 18

HGNC Alias Symbols

CDH14; EY-CADHERIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004934.5
p.D724N
c.2170G>A
Surrounding Variants
2 papers
NM_004934.5
p.S728C
c.2182A>T
1 paper
NM_004934.5
p.V729I
c.2185G>A
1 paper
NM_004934.5
p.P731L
c.2192C>T
1 paper
NM_004934.5
p.E714K
c.2140G>A
1 paper
NM_004934.5
p.Q736*
c.2206C>T
1 paper
NM_004934.5
p.D711Y
c.2131G>T
1 paper
NM_004934.5
p.A739T
c.2215G>A
2 papers
NM_004934.5
p.A739D
c.2216C>A
1 paper
NM_004934.5
p.E708K
c.2122G>A
1 paper
NM_004934.5
p.T706A
c.2116A>G
1 paper
NM_004934.5
p.A747S
c.2239G>T
1 paper
NM_004934.5
p.R700I
c.2099G>T
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