Varaico: Literature-Extracted Genetic Variants

PCDHGB3

60 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 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 577–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 3

HGNC Alias Symbol

PCDH-GAMMA-B3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018924.5

p.E271G

c.812A>G

Surrounding Variants

1 paper

NM_018924.5

p.E276K

c.826G>A

1 paper

NM_018924.5

p.M265I

c.795G>A

1 paper

NM_018924.5

p.A257T

c.769G>A

1 paper

NM_018924.5

p.N254S

c.761A>G

1 paper

NM_018924.5

p.L294M

c.880C>A

1 paper

NM_018924.5

p.N238delFs

c.714delC

1 paper

NM_018924.5

p.R229T

c.686G>C

1 paper

NM_018924.5

p.A321V

c.962C>T

1 paper

NM_018924.5

p.P220A

c.658C>G

1 paper

NM_018924.5

p.E219D

c.657G>C

1 paper

NM_018924.5

p.E219D

c.657G>T

1 paper

NM_018924.5

p.G217W

c.649G>T