Varaico: Literature-Extracted Genetic Variants

Gene:CDH18
Variant:p.S752L

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.S752L
c.2255C>T
Surrounding Variants
1 paper
NM_004934.5
p.D754N
c.2260G>A
1 paper
NM_004934.5
p.S755L
c.2264C>T
1 paper
NM_004934.5
p.A747S
c.2239G>T
1 paper
NM_004934.5
p.D763N
c.2287G>A
2 papers
NM_004934.5
p.A739D
c.2216C>A
1 paper
NM_004934.5
p.A739T
c.2215G>A
1 paper
NM_004934.5
p.G768E
c.2303G>A
1 paper
NM_004934.5
p.Q736*
c.2206C>T
1 paper
NM_004934.5
p.D769G
c.2306A>G
1 paper
NM_004934.5
p.W770*
c.2309G>A
1 paper
NM_004934.5
p.W770*
c.2310G>A
1 paper
NM_004934.5
p.E773K
c.2317G>A
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