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.S1006L

c.3017C>T

Surrounding Variants

1 paper

NM_019035.5

p.R1014H

c.3041G>A

1 paper

NM_019035.5

p.D998G

c.2993A>G

1 paper

NM_019035.5

p.D993N

c.2977G>A

1 paper

NM_019035.5

p.N992K

c.2976C>G

1 paper

NM_019035.5

p.N992K

c.2976C>A

1 paper

NM_019035.5

p.T1022A

c.3064A>G

1 paper

NM_019035.5

p.R1031L

c.3092G>T

1 paper

NM_019035.5

p.S1032S

c.3096C>A

3 papers

NM_019035.5

p.S976Y

c.2927C>A

1 paper

NM_019035.5

p.D970D

c.2910C>T

1 paper

NM_019035.5

p.A1044G

c.3131C>G

1 paper

NM_019035.5

p.E968Q

c.2902G>C