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

Selected Variant

1 paper

NM_018912.3

p.V104L

c.310G>C

Surrounding Variants

2 papers

NM_018912.3

p.V104M

c.310G>A

1 paper

NM_018912.3

p.V104L

c.310G>T

1 paper

NM_018912.3

p.P101S

c.301C>T

1 paper

NM_018912.3

p.C96S

c.287G>C

1 paper

NM_018912.3

p.C96S

c.286T>A

1 paper

NM_018912.3

p.N127fs

c.379_380fs

1 paper

NM_018912.3

p.N127insFs

c.380_381insT

1 paper

NM_018912.3

p.N129H

c.385A>C

1 paper

NM_018912.3

p.L77_N78delFs

c.230_234del5

1 paper

NM_018912.3

p.F133L

c.397T>C

1 paper

NM_018912.3

p.R69K

c.206G>A

1 paper

NM_018912.3

p.E139D

c.417G>C