Varaico: Literature-Extracted Genetic Variants

PCDHGA9

37 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 354–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 9

HGNC Alias Symbol

PCDH-GAMMA-A9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018921.3

p.E286K

c.856G>A

Surrounding Variants

1 paper

NM_018921.3

p.F292Y

c.875T>A

1 paper

NM_018921.3

p.L252F

c.754C>T

1 paper

NM_018921.3

p.A321D

c.962C>A

1 paper

NM_018921.3

p.G324V

c.971G>T

1 paper

NM_018921.3

p.P345H

c.1034C>A

1 paper

NM_018921.3

p.A214V

c.641C>T

1 paper

NM_018921.3

p.A371G

c.1112C>G

1 paper

NM_018921.3

p.R412*

c.1234C>T

1 paper

NM_018921.3

p.P155T

c.463C>A

1 paper

NM_018921.3

p.T421M

c.1262C>T

1 paper

NM_018921.3

p.G149V

c.446G>T

1 paper

NM_018921.3

p.G149*

c.445G>T