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.T350M

c.1049C>T

Surrounding Variants

1 paper

NM_032088.2

p.I349L

c.1045A>C

1 paper

NM_032088.2

p.L361V

c.1081C>G

1 paper

NM_032088.2

p.A367P

c.1099G>C

1 paper

NM_032088.2

p.S306G

c.916A>G

1 paper

NM_032088.2

p.A304T

c.910G>A

1 paper

NM_032088.2

p.R407K

c.1220G>A

1 paper

NM_032088.2

p.Q288*

c.862C>T

1 paper

NM_032088.2

p.E413K

c.1237G>A

1 paper

NM_032088.2

p.G275R

c.823G>C

1 paper

NM_032088.2

p.N274N

c.822C>T

1 paper

NM_032088.2

p.P430S

c.1288C>T

1 paper

NM_032088.2

p.D268N

c.802G>A