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.G39D

c.116G>A

Surrounding Variants

1 paper

NM_001040429.3

p.G36V

c.107G>T

1 paper

NM_001040429.3

p.Q45delFs

c.134_135delAG

1 paper

NM_001040429.3

p.P46L

c.137C>T

1 paper

NM_001040429.3

p.L48F

c.142C>T

1 paper

NM_001040429.3

p.R53C

c.157C>T

1 paper

NM_001040429.3

p.G56R

c.166G>A

1 paper

NM_001040429.3

p.G56R

c.166G>C

1 paper

NM_001040429.3

p.R58C

c.172C>T

1 paper

NM_001040429.3

p.K19_V25del0

c.55_75del21

1 paper

NM_001040429.3

p.W12*

c.36G>A

1 paper

NM_001040429.3

p.W12*

c.35G>A

1 paper

NM_001040429.3

p.L10F

c.28C>T