Varaico: Literature-Extracted Genetic Variants

PCDH17

126 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic ...

Pfam Domains

Cadherin_2aa 20–112UCSCCadherin-like

Cadherinaa 137–234UCSCCadherin domain

Cadherinaa 248–342UCSCCadherin domain

Cadherinaa 357–463UCSCCadherin domain

Cadherinaa 477–574UCSCCadherin domain

Cadherinaa 593–682UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 17

HGNC Alias Symbols

PCDH68; PCH68

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001040429.3

p.R970H

c.2909G>A

Surrounding Variants

1 paper

NM_001040429.3

p.L973F

c.2917C>T

1 paper

NM_001040429.3

p.L973L

c.2919C>G

1 paper

NM_001040429.3

p.P976H

c.2927C>A

1 paper

NM_001040429.3

p.V982I

c.2944G>A

1 paper

NM_001040429.3

p.C953_W954insFs

c.2859_2860insT

3 papers

NM_001040429.3

p.E988K

c.2962G>A

1 paper

NM_001040429.3

p.P992L

c.2975C>T

1 paper

NM_001040429.3

p.T993S

c.2977A>T

1 paper

NM_001040429.3

p.T993S

c.2978C>G

1 paper

NM_001040429.3

p.K996N

c.2988G>C

1 paper

NM_001040429.3

p.K996N

c.2988G>T

1 paper

NM_001040429.3

p.D1004Y

c.3010G>T