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.D929E

c.2787C>G

Surrounding Variants

1 paper

NM_019035.5

p.D929E

c.2787C>A

1 paper

NM_019035.5

p.Q930H

c.2790G>T

1 paper

NM_019035.5

p.Q930H

c.2790G>C

1 paper

NM_019035.5

p.W932R

c.2794T>C

1 paper

NM_019035.5

p.W932R

c.2794T>A

1 paper

NM_019035.5

p.E920V

c.2759A>T

1 paper

NM_019035.5

p.T919T

c.2757G>A

2 papers

NM_019035.5

p.T919K

c.2756C>A

1 paper

NM_019035.5

p.M915L

c.2743A>T

1 paper

NM_019035.5

p.M915V

c.2743A>G

1 paper

NM_019035.5

p.M915L

c.2743A>C

1 paper

NM_019035.5

p.G951R

c.2851G>C