Varaico: Literature-Extracted Genetic Variants

Gene:CDH18
Variant:p.Q20H

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.Q20H
c.60G>T
Surrounding Variants
1 paper
NM_004934.5
p.Q20H
c.60G>C
1 paper
NM_004934.5
p.L13Q
c.38T>A
1 paper
NM_004934.5
p.S7P
c.19T>C
1 paper
NM_004934.5
p.S5S
c.15C>T
1 paper
NM_004934.5
p.T38A
c.112A>G
2 papers
NM_004934.5
p.M1I
c.3G>T
2 papers
NM_004934.5
p.M1I
c.3G>C
1 paper
NM_004934.5
p.M1I
c.3G>A
1 paper
NM_004934.5
p.H48R
c.143A>G
1 paper
NM_004934.5
p.K52E
c.154A>G
1 paper
NM_004934.5
p.K52Q
c.154A>C
1 paper
NM_004934.5
p.V56L
c.166G>T
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