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.A193delFs

c.577delC

Surrounding Variants

1 paper

NM_019035.5

p.E185K

c.553G>A

2 papers

NM_019035.5

p.R206W

c.616C>T

1 paper

NM_019035.5

p.L176F

c.526C>T

1 paper

NM_019035.5

p.S175S

c.525G>A

1 paper

NM_019035.5

p.S170F

c.509C>T

1 paper

NM_019035.5

p.S170A

c.508T>G

1 paper

NM_019035.5

p.R155H

c.464G>A

1 paper

NM_019035.5

p.T154A

c.460A>G

1 paper

NM_019035.5

p.A150V

c.449C>T

1 paper

NM_019035.5

p.E148K

c.442G>A

1 paper

NM_019035.5

p.N240S

c.719A>G

1 paper

NM_019035.5

p.R139I

c.416G>T