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

Selected Variant

1 paper

NM_004934.5

p.T706A

c.2116A>G

Surrounding Variants

1 paper

NM_004934.5

p.E708K

c.2122G>A

1 paper

NM_004934.5

p.D711Y

c.2131G>T

1 paper

NM_004934.5

p.R700I

c.2099G>T

1 paper

NM_004934.5

p.E714K

c.2140G>A

1 paper

NM_004934.5

p.E694K

c.2080G>A

1 paper

NM_004934.5

p.I691M

c.2073C>G

2 papers

NM_004934.5

p.R688Q

c.2063G>A

1 paper

NM_004934.5

p.D724N

c.2170G>A

1 paper

NM_004934.5

p.Y687insFs

c.2060_2061insT

2 papers

NM_004934.5

p.S728C

c.2182A>T

1 paper

NM_004934.5

p.E683G

c.2048A>G

1 paper

NM_004934.5

p.V729I

c.2185G>A