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

1 paper

NM_032088.2

p.R580H

c.1739G>A

Surrounding Variants

1 paper

NM_032088.2

p.P579S

c.1735C>T

1 paper

NM_032088.2

p.R584P

c.1751G>C

1 paper

NM_032088.2

p.A593T

c.1777G>A

1 paper

NM_032088.2

p.S598S

c.1794G>A

2 papers

NM_032088.2

p.G599V

c.1796G>T

1 paper

NM_032088.2

p.T623T

c.1869G>T

1 paper

NM_032088.2

p.R526*

c.1576C>T

1 paper

NM_032088.2

p.A637V

c.1910C>T

1 paper

NM_032088.2

p.A516V

c.1547C>T

1 paper

NM_032088.2

p.I507F

c.1519A>T

1 paper

NM_032088.2

p.A499V

c.1496C>T

1 paper

NM_032088.2

p.A499fs

c.1495_1496fs