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

Selected Variant

1 paper

NM_018923.3

p.S470S

c.1410T>C

Surrounding Variants

1 paper

NM_018923.3

p.I471I

c.1413C>T

1 paper

NM_018923.3

p.A469T

c.1405G>A

1 paper

NM_018923.3

p.S477S

c.1431T>C

1 paper

NM_018923.3

p.T455N

c.1364C>A

1 paper

NM_018923.3

p.T455I

c.1364C>T

1 paper

NM_018923.3

p.V451I

c.1351G>A

1 paper

NM_018923.3

p.P450L

c.1349C>T

2 papers

NM_018923.3

p.R499W

c.1495C>T

1 paper

NM_018923.3

p.I442T

c.1325T>C

1 paper

NM_018923.3

p.A509V

c.1526C>T

1 paper

NM_018923.3

p.G428delFs

c.1283delG

1 paper

NM_018923.3

p.A516V

c.1547C>T