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.S763S

c.2289G>A

Surrounding Variants

1 paper

NM_018916.4

p.R764R

c.2290C>A

1 paper

NM_018916.4

p.L759F

c.2275C>T

2 papers

NM_018916.4

p.A776V

c.2327C>T

1 paper

NM_018916.4

p.A743E

c.2228C>A

1 paper

NM_018916.4

p.A743V

c.2228C>T

1 paper

NM_018916.4

p.Q808H

c.2424G>C

1 paper

NM_018916.4

p.Q808H

c.2424G>T

1 paper

NM_018916.4

p.F707L

c.2119T>C

1 paper

NM_018916.4

p.A706T

c.2116G>A

1 paper

NM_018916.4

p.A696V

c.2087C>T

1 paper

NM_018916.4

p.S687S

c.2061G>T

1 paper

NM_018916.4

p.E679K

c.2035G>A