Varaico: Literature-Extracted Genetic Variants

PCDHGB2

77 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 578–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 2

HGNC Alias Symbol

PCDH-GAMMA-B2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 85 variants

3 papers

NM_018923.3

p.V58I

c.172G>A

2 papers

NM_018923.3

p.R499W

c.1495C>T

2 papers

NM_018923.3

p.E523Q

c.1567G>C

2 papers

NM_018923.3

p.R549C

c.1645C>T

2 papers

NM_018923.3

p.A559V

c.1676C>T

2 papers

NM_018923.3

p.A656A

c.1968T>C

1 paper

NM_018923.3

p.C8C

c.24C>T

1 paper

NM_018923.3

p.R12P

c.35G>C

1 paper

NM_018923.3

p.P26R

c.77C>G

1 paper

NM_018923.3

p.I37T

c.110T>C

1 paper

NM_018923.3

p.R59R

c.177G>T

1 paper

NM_018923.3

p.A63T

c.187G>A