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.G428delFs

c.1283delG

Surrounding Variants

1 paper

NM_018923.3

p.T421I

c.1262C>T

1 paper

NM_018923.3

p.I442T

c.1325T>C

1 paper

NM_018923.3

p.T406S

c.1216A>T

1 paper

NM_018923.3

p.P450L

c.1349C>T

1 paper

NM_018923.3

p.V451I

c.1351G>A

1 paper

NM_018923.3

p.K399N

c.1197G>C

1 paper

NM_018923.3

p.K399N

c.1197G>T

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.G388R

c.1162G>A

1 paper

NM_018923.3

p.G388R

c.1162G>C

1 paper

NM_018923.3

p.A469T

c.1405G>A