Varaico: Literature-Extracted Genetic Variants

PCDHGA3

89 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 247–338UCSCCadherin domain

Cadherinaa 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Cadherin_C_2aa 688–772UCSCCadherin cytoplasmic C-terminal

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 3

HGNC Alias Symbol

PCDH-GAMMA-A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018916.4

p.V513I

c.1537G>A

Surrounding Variants

1 paper

NM_018916.4

p.N510K

c.1530C>A

1 paper

NM_018916.4

p.N510K

c.1530C>G

1 paper

NM_018916.4

p.S502F

c.1505C>T

1 paper

NM_018916.4

p.P500L

c.1499C>T

1 paper

NM_018916.4

p.P541T

c.1621C>A

1 paper

NM_018916.4

p.S544N

c.1631G>A

1 paper

NM_018916.4

p.D478V

c.1433A>T

1 paper

NM_018916.4

p.A476T

c.1426G>A

1 paper

NM_018916.4

p.N558N

c.1674C>T

1 paper

NM_018916.4

p.P462S

c.1384C>T

1 paper

NM_018916.4

p.Y460Y

c.1380C>T

1 paper

NM_018916.4

p.T569A

c.1705A>G