Varaico: Literature-Extracted Genetic Variants

PCDHGA5

68 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 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 5

HGNC Alias Symbols

CDH-GAMMA-A5; PCDH-GAMMA-A5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018918.3

p.G482S

c.1444G>A

Surrounding Variants

2 papers

NM_018918.3

p.A499V

c.1496C>T

1 paper

NM_018918.3

p.D510N

c.1528G>A

1 paper

NM_018918.3

p.G512S

c.1534G>A

1 paper

NM_018918.3

p.A443T

c.1327G>A

1 paper

NM_018918.3

p.E523E

c.1569G>A

1 paper

NM_018918.3

p.V424I

c.1270G>A

1 paper

NM_018918.3

p.D417H

c.1249G>C

1 paper

NM_018918.3

p.D411A

c.1232A>C

1 paper

NM_018918.3

p.T406R

c.1217C>G

1 paper

NM_018918.3

p.T559M

c.1676C>T

1 paper

NM_018918.3

p.A582T

c.1744G>A

1 paper

NM_018918.3

p.G377R

c.1129G>A