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.V19A

c.56T>C

Surrounding Variants

1 paper

NM_019035.5

p.L17delFs

c.50delA

1 paper

NM_019035.5

p.D24N

c.70G>A

1 paper

NM_019035.5

p.Y32Y

c.96C>T

1 paper

NM_019035.5

p.R39S

c.117G>T

1 paper

NM_019035.5

p.R39S

c.117G>C

1 paper

NM_019035.5

p.A45delFs

c.134_135delTG

1 paper

NM_019035.5

p.P61L

c.182C>T

1 paper

NM_019035.5

p.R65Q

c.194G>A

1 paper

NM_019035.5

p.N80D

c.238A>G

1 paper

NM_019035.5

p.E81K

c.241G>A

1 paper

NM_019035.5

p.Q99H

c.297G>T

1 paper

NM_019035.5

p.Q99H

c.297G>C