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.D970D

c.2910C>T

Surrounding Variants

1 paper

NM_019035.5

p.E968Q

c.2902G>C

3 papers

NM_019035.5

p.S976Y

c.2927C>A

1 paper

NM_019035.5

p.Q961L

c.2882A>T

1 paper

NM_019035.5

p.P958P

c.2874C>A

1 paper

NM_019035.5

p.T956T

c.2868G>C

1 paper

NM_019035.5

p.E953_F954insFs

c.2859_2860insT

1 paper

NM_019035.5

p.G951R

c.2851G>C

1 paper

NM_019035.5

p.G951R

c.2851G>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.D993N

c.2977G>A

1 paper

NM_019035.5

p.D998G

c.2993A>G