Varaico: Literature-Extracted Genetic Variants

PCDHGA2

100 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, 2

HGNC Alias Symbol

PCDH-GAMMA-A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018915.4

p.V708I

c.2122G>A

Surrounding Variants

1 paper

NM_018915.4

p.A698V

c.2093C>T

1 paper

NM_018915.4

p.K721E

c.2161A>G

1 paper

NM_018915.4

p.L732F

c.2196G>C

1 paper

NM_018915.4

p.L732F

c.2196G>T

2 papers

NM_018915.4

p.I683K

c.2048T>A

1 paper

NM_018915.4

p.S737S

c.2211C>T

1 paper

NM_018915.4

p.V741A

c.2222T>C

1 paper

NM_018915.4

p.V746I

c.2236G>A

1 paper

NM_018915.4

p.P669S

c.2005C>T

2 papers

NM_018915.4

p.L660V

c.1978C>G

1 paper

NM_018915.4

p.A656T

c.1966G>A

1 paper

NM_018915.4

p.R764Q

c.2291G>A