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.I341K

c.1022T>A

Surrounding Variants

1 paper

NM_019035.5

p.S333*

c.998C>G

1 paper

NM_019035.5

p.S333*

c.998C>A

1 paper

NM_019035.5

p.P352_I354del3

c.1054_1061del9

1 paper

NM_019035.5

p.E365*

c.1093G>T

1 paper

NM_019035.5

p.K298T

c.893A>C

1 paper

NM_019035.5

p.C397G

c.1189T>G

1 paper

NM_019035.5

p.L416I

c.1246T>A

1 paper

NM_019035.5

p.T419N

c.1256C>A

1 paper

NM_019035.5

p.E426*

c.1276G>T

1 paper

NM_019035.5

p.R428T

c.1283G>C

1 paper

NM_019035.5

p.S429Y

c.1286C>A

1 paper

NM_019035.5

p.E430Q

c.1288G>C