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

2 papers

NM_018921.3

p.K765T

c.2294A>C

Surrounding Variants

1 paper

NM_018921.3

p.S655L

c.1964C>T

1 paper

NM_018921.3

p.P652fs

c.1954_1955fs

1 paper

NM_018921.3

p.P652delFs

c.1954delC

1 paper

NM_018921.3

p.D634N

c.1900G>A

1 paper

NM_018921.3

p.R580C

c.1738C>T

1 paper

NM_018921.3

p.D536E

c.1608C>A

1 paper

NM_018921.3

p.D536E

c.1608C>G

1 paper

NM_018921.3

p.G512G

c.1536T>C

1 paper

NM_018921.3

p.E493K

c.1477G>A

1 paper

NM_018921.3

p.S458_V459delFs

c.1374_1377del4

1 paper

NM_018921.3

p.P449S

c.1345C>T

1 paper

NM_018921.3

p.D447H

c.1339G>C