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

1–12 of 150 variants

4 papers

NM_019120.5

p.V233insFs

c.698_699insCC

3 papers

NM_019120.5

p.L55P

c.164T>C

3 papers

NM_019120.5

p.A361V

c.1082C>T

3 papers

NM_019120.5

p.V698_S699insCC

c.2092_2096ins6

3 papers

NM_019120.5

p.L767F

c.2299C>T

2 papers

NM_019120.5

p.G150E

c.449G>A

2 papers

NM_019120.5

p.A152V

c.455C>T

2 papers

NM_019120.5

p.A152A

c.456G>A

2 papers

NM_019120.5

p.V234delFs

c.701_702delTC

2 papers

NM_019120.5

p.V234fs

c.700_701fs

2 papers

NM_019120.5

p.N237N

c.711T>C

2 papers

NM_019120.5

p.E244Q

c.730G>C