Varaico: Literature-Extracted Genetic Variants

PCDHB8

111 papers

RefSeq Summary

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization simil...

Pfam Domains

Cadherin_2aa 31–113UCSCCadherin-like

Cadherinaa 140–234UCSCCadherin domain

Cadherinaa 248–339UCSCCadherin domain

Cadherinaa 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 576–664UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 8

HGNC Alias Symbols

PCDH-BETA8; PCDH3I

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019120.5

p.V234del1

c.700_701delGTC

Surrounding Variants

1 paper

NM_019120.5

p.V233V

c.699T>C

1 paper

NM_019120.5

p.V234fs

c.700_701fs

2 papers

NM_019120.5

p.V234delFs

c.701_702delTC

2 papers

NM_019120.5

p.V234fs

c.700_701fs

4 papers

NM_019120.5

p.V233insFs

c.698_699insCC

1 paper

NM_019120.5

p.V233fs

c.697_698fs

1 paper

NM_019120.5

p.E232K

c.694G>A

1 paper

NM_019120.5

p.I231I

c.693T>C

2 papers

NM_019120.5

p.N237N

c.711T>C

2 papers

NM_019120.5

p.E244Q

c.730G>C

1 paper

NM_019120.5

p.P221_G225delFs

c.662_675del14

1 paper

NM_019120.5

p.R249T

c.746G>C