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.L215delFs

c.644delT

Surrounding Variants

1 paper

NM_018918.3

p.A214T

c.640G>A

1 paper

NM_018918.3

p.L215*

c.644T>A

1 paper

NM_018918.3

p.L215*

c.644T>G

1 paper

NM_018918.3

p.D234N

c.700G>A

1 paper

NM_018918.3

p.G185R

c.553G>A

1 paper

NM_018918.3

p.E246V

c.737A>T

1 paper

NM_018918.3

p.E253K

c.757G>A

1 paper

NM_018918.3

p.T259A

c.775A>G

1 paper

NM_018918.3

p.R260Q

c.779G>A

1 paper

NM_018918.3

p.S166S

c.498T>C

1 paper

NM_018918.3

p.E284A

c.851A>C

1 paper

NM_018918.3

p.E285K

c.853G>A