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.E463D

c.1389G>T

Surrounding Variants

1 paper

NM_032088.2

p.E463D

c.1389G>C

1 paper

NM_032088.2

p.D478N

c.1432G>A

1 paper

NM_032088.2

p.D447N

c.1339G>A

1 paper

NM_032088.2

p.N484Y

c.1450A>T

1 paper

NM_032088.2

p.V442L

c.1324G>C

1 paper

NM_032088.2

p.V442L

c.1324G>T

1 paper

NM_032088.2

p.A499delFs

c.1495delG

1 paper

NM_032088.2

p.P430S

c.1288C>T

1 paper

NM_032088.2

p.A499fs

c.1495_1496fs

1 paper

NM_032088.2

p.A499V

c.1496C>T

1 paper

NM_032088.2

p.I507F

c.1519A>T

1 paper

NM_032088.2

p.E413K

c.1237G>A