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.N236K

c.708T>A

Surrounding Variants

1 paper

NM_018912.3

p.N236K

c.708T>G

1 paper

NM_018912.3

p.P239L

c.716C>T

1 paper

NM_018912.3

p.I230_D234del0

c.690_701del12

1 paper

NM_018912.3

p.I230_D234del5

c.688_701del15

1 paper

NM_018912.3

p.A245S

c.733G>T

1 paper

NM_018912.3

p.T225S

c.673A>T

1 paper

NM_018912.3

p.G218delFs

c.653delG

1 paper

NM_018912.3

p.I211F

c.631A>T

1 paper

NM_018912.3

p.P269L

c.806C>T

1 paper

NM_018912.3

p.P189S

c.565C>T

2 papers

NM_018912.3

p.R287K

c.860G>A

1 paper

NM_018912.3

p.R287T

c.860G>C