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.R596delFs

c.1786_1787delAG

Surrounding Variants

1 paper

NM_018916.4

p.R596fs

c.1786_1787fs

1 paper

NM_018916.4

p.D597fs

c.1789_1790fs

1 paper

NM_018916.4

p.A602T

c.1804G>A

2 papers

NM_018916.4

p.V588A

c.1763T>C

1 paper

NM_018916.4

p.E583K

c.1747G>A

1 paper

NM_018916.4

p.G571S

c.1711G>A

1 paper

NM_018916.4

p.T569A

c.1705A>G

1 paper

NM_018916.4

p.A629V

c.1886C>T

1 paper

NM_018916.4

p.A629A

c.1887G>A

1 paper

NM_018916.4

p.N558N

c.1674C>T

2 papers

NM_018916.4

p.V646I

c.1936G>A

1 paper

NM_018916.4

p.S544N

c.1631G>A