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.K640T

c.1919A>C

Surrounding Variants

1 paper

NM_004934.5

p.S639fs

c.1915_1916fs

1 paper

NM_004934.5

p.K641*

c.1921A>T

1 paper

NM_004934.5

p.S639I

c.1916G>T

1 paper

NM_004934.5

p.E642K

c.1924G>A

2 papers

NM_004934.5

p.R638H

c.1913G>A

1 paper

NM_004934.5

p.R637K

c.1910G>A

1 paper

NM_004934.5

p.L644F

c.1932G>T

1 paper

NM_004934.5

p.L644F

c.1932G>C

1 paper

NM_004934.5

p.E648K

c.1942G>A

1 paper

NM_004934.5

p.L632V

c.1894C>G

1 paper

NM_004934.5

p.V631del1

c.1891_1892delTAC

1 paper

NM_004934.5

p.V630_V631del1

c.1890_1892delACC