Varaico: Literature-Extracted Genetic Variants

PCDH18

93 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a c...

Pfam Domains

Cadherin_2aa 29–113UCSCCadherin-like

Cadherinaa 142–237UCSCCadherin domain

Cadherinaa 251–345UCSCCadherin domain

Cadherinaa 367–456UCSCCadherin domain

Cadherinaa 470–567UCSCCadherin domain

Cadherinaa 586–676UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 18

HGNC Alias Symbols

KIAA1562; PCDH68L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019035.5

p.E815*

c.2443G>T

Surrounding Variants

1 paper

NM_019035.5

p.E815D

c.2445G>T

1 paper

NM_019035.5

p.E815D

c.2445G>C

1 paper

NM_019035.5

p.N811S

c.2432A>G

1 paper

NM_019035.5

p.S809S

c.2427A>C

1 paper

NM_019035.5

p.N797K

c.2391C>G

1 paper

NM_019035.5

p.N797K

c.2391C>A

1 paper

NM_019035.5

p.R793R

c.2379G>A

1 paper

NM_019035.5

p.E786Q

c.2356G>C

1 paper

NM_019035.5

p.P783H

c.2348C>A

1 paper

NM_019035.5

p.S780P

c.2338T>C

1 paper

NM_019035.5

p.P779P

c.2337A>G

1 paper

NM_019035.5

p.S777L

c.2330C>T