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.L294P

c.881T>C

Surrounding Variants

1 paper

NM_018916.4

p.A289T

c.865G>A

1 paper

NM_018916.4

p.K283T

c.848A>C

1 paper

NM_018916.4

p.N274D

c.820A>G

1 paper

NM_018916.4

p.E316K

c.946G>A

1 paper

NM_018916.4

p.P269A

c.805C>G

2 papers

NM_018916.4

p.A331S

c.991G>T

1 paper

NM_018916.4

p.N238K

c.714C>A

1 paper

NM_018916.4

p.T350M

c.1049C>T

1 paper

NM_018916.4

p.N236Y

c.706A>T

1 paper

NM_018916.4

p.G224G

c.672C>A

1 paper

NM_018916.4

p.D219V

c.656A>T

1 paper

NM_018916.4

p.D219N

c.655G>A