Varaico: Literature-Extracted Genetic Variants

PCDHGA1

91 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 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 579–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 1

HGNC Alias Symbol

PCDH-GAMMA-A1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 121 variants

3 papers

NM_018912.3

p.R293C

c.877C>T

2 papers

NM_018912.3

p.G63R

c.187G>A

2 papers

NM_018912.3

p.G63R

c.187G>C

2 papers

NM_018912.3

p.V104M

c.310G>A

2 papers

NM_018912.3

p.V152I

c.454G>A

2 papers

NM_018912.3

p.R287K

c.860G>A

2 papers

NM_018912.3

p.P653P

c.1959G>T

2 papers

NM_018912.3

p.V658I

c.1972G>A

1 paper

NM_018912.3

p.L16L

c.48G>T

1 paper

NM_018912.3

p.R69K

c.206G>A

1 paper

NM_018912.3

p.L77_N78delFs

c.230_234del5

1 paper

NM_018912.3

p.C96S

c.286T>A