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.A1044G

c.3131C>G

Surrounding Variants

1 paper

NM_019035.5

p.K1045Q

c.3133A>C

1 paper

NM_019035.5

p.G1048C

c.3142G>T

1 paper

NM_019035.5

p.Q1051H

c.3153G>T

1 paper

NM_019035.5

p.Q1051H

c.3153G>C

1 paper

NM_019035.5

p.G1052R

c.3154G>C

1 paper

NM_019035.5

p.G1052R

c.3154G>A

1 paper

NM_019035.5

p.A1055S

c.3163G>T

1 paper

NM_019035.5

p.S1032S

c.3096C>A

1 paper

NM_019035.5

p.R1031L

c.3092G>T

1 paper

NM_019035.5

p.A1057E

c.3170C>A

1 paper

NM_019035.5

p.T1060T

c.3180G>A

1 paper

NM_019035.5

p.T1022A

c.3064A>G