Varaico: Literature-Extracted Genetic Variants

PCDHGA4

47 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 61–143UCSCCadherin-like

Cadherinaa 169–264UCSCCadherin domain

Cadherinaa 278–369UCSCCadherin domain

Cadherinaa 383–474UCSCCadherin domain

Cadherinaa 488–584UCSCCadherin domain

Cadherinaa 609–696UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 4

HGNC Alias Symbol

PCDH-GAMMA-A4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018917.4

p.A523S

c.1567G>T

Surrounding Variants

1 paper

NM_018917.4

p.G529D

c.1586G>A

1 paper

NM_018917.4

p.D514G

c.1541A>G

1 paper

NM_018917.4

p.P493R

c.1478C>G

1 paper

NM_018917.4

p.A490V

c.1469C>T

1 paper

NM_018917.4

p.T467N

c.1400C>A

1 paper

NM_018917.4

p.T600T

c.1800T>G

1 paper

NM_018917.4

p.R434Q

c.1301G>A

1 paper

NM_018917.4

p.G630R

c.1888G>C

1 paper

NM_018917.4

p.T414I

c.1241C>T

2 papers

NM_018917.4

p.V396fs

c.1186_1187fs

3 papers

NM_018917.4

p.V396delFs

c.1187delT

1 paper

NM_018917.4

p.R658C

c.1972C>T