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

1 paper

NM_001040429.3

p.Y522_V525del4

c.1564_1574del12

Surrounding Variants

1 paper

NM_001040429.3

p.V525G

c.1574T>G

1 paper

NM_001040429.3

p.S526Y

c.1577C>A

1 paper

NM_001040429.3

p.G517S

c.1549G>A

1 paper

NM_001040429.3

p.S514L

c.1541C>T

1 paper

NM_001040429.3

p.A536T

c.1606G>A

1 paper

NM_001040429.3

p.R538H

c.1613G>A

1 paper

NM_001040429.3

p.D500N

c.1498G>A

1 paper

NM_001040429.3

p.A496A

c.1488C>T

1 paper

NM_001040429.3

p.L495L

c.1485C>A

2 papers

NM_001040429.3

p.V494A

c.1481T>C

1 paper

NM_001040429.3

p.G492C

c.1474G>T

1 paper

NM_001040429.3

p.G558G

c.1674G>A