Varaico: Literature-Extracted Genetic Variants

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

1–12 of 200 variants

2 papers

NM_004934.5

p.M1I

c.3G>T

2 papers

NM_004934.5

p.M1I

c.3G>C

2 papers

NM_004934.5

p.E65*

c.193G>T

2 papers

NM_004934.5

p.D105N

c.313G>A

2 papers

NM_004934.5

p.L329F

c.985C>T

2 papers

NM_004934.5

p.E498K

c.1492G>A

2 papers

NM_004934.5

p.R638H

c.1913G>A

2 papers

NM_004934.5

p.R652W

c.1954C>T

2 papers

NM_004934.5

p.G664*

c.1990G>T

2 papers

NM_004934.5

p.G664R

c.1990G>C

2 papers

NM_004934.5

p.G664R

c.1990G>A

2 papers

NM_004934.5

p.R688Q

c.2063G>A