Varaico: Literature-Extracted Genetic Variants

Gene:CDH18
Variant:p.E498K

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
2 papers
NM_004934.5
p.E498K
c.1492G>A
Surrounding Variants
1 paper
NM_004934.5
p.P502P
c.1506T>G
1 paper
NM_004934.5
p.D493N
c.1477G>A
1 paper
NM_004934.5
p.A489V
c.1466C>T
1 paper
NM_004934.5
p.P485S
c.1453C>T
1 paper
NM_004934.5
p.V478D
c.1433T>A
1 paper
NM_004934.5
p.T473P
c.1417A>C
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