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.R602*

c.1804A>T

Surrounding Variants

1 paper

NM_019035.5

p.D607G

c.1820A>G

1 paper

NM_019035.5

p.R608K

c.1823G>A

1 paper

NM_019035.5

p.N613S

c.1838A>G

1 paper

NM_019035.5

p.T585M

c.1754C>T

1 paper

NM_019035.5

p.A619T

c.1855G>A

4 papers

NM_019035.5

p.R582H

c.1745G>A

1 paper

NM_019035.5

p.R582C

c.1744C>T

1 paper

NM_019035.5

p.L581L

c.1741T>C

1 paper

NM_019035.5

p.P574L

c.1721C>T

1 paper

NM_019035.5

p.E569K

c.1705G>A

1 paper

NM_019035.5

p.D637D

c.1911C>T

1 paper

NM_019035.5

p.N641D

c.1921A>G