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.V781I

c.2341G>A

Surrounding Variants

1 paper

NM_018923.3

p.D783N

c.2347G>A

1 paper

NM_018923.3

p.A777A

c.2331G>A

1 paper

NM_018923.3

p.W787*

c.2360G>A

1 paper

NM_018923.3

p.W787*

c.2361G>A

1 paper

NM_018923.3

p.A795V

c.2384C>T

1 paper

NM_018923.3

p.S751F

c.2252C>T

1 paper

NM_018923.3

p.G738V

c.2213G>T

1 paper

NM_018923.3

p.L713L

c.2139G>T

1 paper

NM_018923.3

p.A706V

c.2117C>T

1 paper

NM_018923.3

p.V694M

c.2080G>A

1 paper

NM_018923.3

p.Y691C

c.2072A>G

1 paper

NM_018923.3

p.Q689E

c.2065C>G