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

1 paper

NM_018926.3

p.D134N

c.400G>A

Surrounding Variants

1 paper

NM_018926.3

p.P131T

c.391C>A

1 paper

NM_018926.3

p.G149delFs

c.445delG

1 paper

NM_018926.3

p.I116L

c.346A>C

2 papers

NM_018926.3

p.P113L

c.338C>T

1 paper

NM_018926.3

p.D159V

c.476A>T

1 paper

NM_018926.3

p.Y170F

c.509A>T

1 paper

NM_018926.3

p.I172I

c.516A>T

1 paper

NM_018926.3

p.K87T

c.260A>C

1 paper

NM_018926.3

p.G189D

c.566G>A

1 paper

NM_018926.3

p.V47E

c.140T>A

1 paper

NM_018926.3

p.P38L

c.113C>T

1 paper

NM_018926.3

p.P27P

c.81C>G