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.R374Q

c.1121G>A

Surrounding Variants

1 paper

NM_018916.4

p.R374*

c.1120C>T

1 paper

NM_018916.4

p.F392L

c.1174T>C

1 paper

NM_018916.4

p.F392L

c.1176T>A

1 paper

NM_018916.4

p.F392L

c.1176T>G

1 paper

NM_018916.4

p.T350M

c.1049C>T

1 paper

NM_018916.4

p.R403C

c.1207C>T

1 paper

NM_018916.4

p.V405L

c.1213G>C

1 paper

NM_018916.4

p.V405L

c.1213G>T

2 papers

NM_018916.4

p.A331S

c.991G>T

1 paper

NM_018916.4

p.N419H

c.1255A>C

1 paper

NM_018916.4

p.G428V

c.1283G>T

1 paper

NM_018916.4

p.E316K

c.946G>A