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

1–12 of 81 variants

2 papers

NM_018924.5

p.N389K

c.1167C>A

2 papers

NM_018924.5

p.N389K

c.1167C>G

2 papers

NM_018924.5

p.D677N

c.2029G>A

2 papers

NM_018924.5

p.L715M

c.2143C>A

1 paper

NM_018924.5

p.R8K

c.23G>A

1 paper

NM_018924.5

p.G9R

c.25G>C

1 paper

NM_018924.5

p.S23Y

c.68C>A

1 paper

NM_018924.5

p.S100L

c.299C>T

1 paper

NM_018924.5

p.E111G

c.332A>G

1 paper

NM_018924.5

p.D125D

c.375T>C

1 paper

NM_018924.5

p.I126M

c.378T>G

1 paper

NM_018924.5

p.N127D

c.379A>G