Varaico: Literature-Extracted Genetic Variants

PCDHGB6

69 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 32–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 577–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 6

HGNC Alias Symbol

PCDH-GAMMA-B6

Papers

RefSeq ID

Protein change

DNA change

1–12 of 76 variants

2 papers

NM_018926.3

p.P113L

c.338C>T

2 papers

NM_018926.3

p.D453N

c.1357G>A

2 papers

NM_018926.3

p.N545K

c.1635C>A

2 papers

NM_018926.3

p.N545K

c.1635C>G

2 papers

NM_018926.3

p.R549H

c.1646G>A

2 papers

NM_018926.3

p.G571V

c.1712G>T

1 paper

NM_018926.3

p.R9C

c.25C>T

1 paper

NM_018926.3

p.V16V

c.48G>A

1 paper

NM_018926.3

p.P27P

c.81C>G

1 paper

NM_018926.3

p.P38L

c.113C>T

1 paper

NM_018926.3

p.V47E

c.140T>A

1 paper

NM_018926.3

p.K87T

c.260A>C