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.D270E

c.810T>G

Surrounding Variants

1 paper

NM_018915.4

p.D270E

c.810T>A

1 paper

NM_018915.4

p.E287D

c.861A>C

1 paper

NM_018915.4

p.E287D

c.861A>T

1 paper

NM_018915.4

p.I249L

c.745A>C

1 paper

NM_018915.4

p.I249L

c.745A>T

1 paper

NM_018915.4

p.I303V

c.907A>G

1 paper

NM_018915.4

p.I228M

c.684C>G

1 paper

NM_018915.4

p.G224D

c.671G>A

1 paper

NM_018915.4

p.D219V

c.656A>T

1 paper

NM_018915.4

p.D216Y

c.646G>T

2 papers

NM_018915.4

p.A331V

c.992C>T

1 paper

NM_018915.4

p.I334V

c.1000A>G