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.K197E

c.589A>G

Surrounding Variants

1 paper

NM_018923.3

p.I195F

c.583A>T

1 paper

NM_018923.3

p.A181T

c.541G>A

1 paper

NM_018923.3

p.N175N

c.525C>T

1 paper

NM_018923.3

p.R169S

c.507A>C

1 paper

NM_018923.3

p.R169S

c.507A>T

1 paper

NM_018923.3

p.T225M

c.674C>T

1 paper

NM_018923.3

p.V232I

c.694G>A

1 paper

NM_018923.3

p.V246V

c.738G>T

1 paper

NM_018923.3

p.S145F

c.434C>T

1 paper

NM_018923.3

p.T250N

c.749C>A

1 paper

NM_018923.3

p.I122T

c.365T>C

1 paper

NM_018923.3

p.E276*

c.826G>T