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

1–12 of 73 variants

3 papers

NM_032088.2

p.R65C

c.193C>T

3 papers

NM_032088.2

p.P174delFs

c.520delC

2 papers

NM_032088.2

p.L16R

c.47T>G

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

2 papers

NM_032088.2

p.P221R

c.662C>G

2 papers

NM_032088.2

p.G599V

c.1796G>T

1 paper

NM_032088.2

p.A2S

c.4G>T

1 paper

NM_032088.2

p.G11S

c.31G>A

1 paper

NM_032088.2

p.Y33C

c.98A>G

1 paper

NM_032088.2

p.V35M

c.103G>A