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

Selected Variant

2 papers

NM_018926.3

p.G571V

c.1712G>T

Surrounding Variants

1 paper

NM_018926.3

p.S572S

c.1716C>T

1 paper

NM_018926.3

p.G568S

c.1702G>A

1 paper

NM_018926.3

p.F575S

c.1724T>C

1 paper

NM_018926.3

p.P579L

c.1736C>T

1 paper

NM_018926.3

p.R580L

c.1739G>T

1 paper

NM_018926.3

p.V562M

c.1684G>A

2 papers

NM_018926.3

p.R549H

c.1646G>A

2 papers

NM_018926.3

p.N545K

c.1635C>A

2 papers

NM_018926.3

p.N545K

c.1635C>G

1 paper

NM_018926.3

p.R535H

c.1604G>A

1 paper

NM_018926.3

p.Q610K

c.1828C>A

1 paper

NM_018926.3

p.G615R

c.1843G>A