Varaico: Literature-Extracted Genetic Variants

PCDHGA8

82 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 354–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 8

HGNC Alias Symbols

KIAA0327; PCDH-GAMMA-A8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_032088.2

p.P174delFs

c.520delC

Surrounding Variants

2 papers

NM_032088.2

p.S173fs

c.517_518fs

2 papers

NM_032088.2

p.P174fs

c.520_521fs

2 papers

NM_032088.2

p.D186Y

c.556G>T

1 paper

NM_032088.2

p.N187K

c.561T>A

1 paper

NM_032088.2

p.N187K

c.561T>G

1 paper

NM_032088.2

p.G188A

c.563G>C

1 paper

NM_032088.2

p.A157P

c.469G>C

1 paper

NM_032088.2

p.R151G

c.451C>G

1 paper

NM_032088.2

p.R198C

c.592C>T

1 paper

NM_032088.2

p.R198H

c.593G>A

1 paper

NM_032088.2

p.E144K

c.430G>A

1 paper

NM_032088.2

p.D125G

c.374A>G