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.R12P

c.35G>C

Surrounding Variants

1 paper

NM_018923.3

p.C8C

c.24C>T

1 paper

NM_018923.3

p.P26R

c.77C>G

1 paper

NM_018923.3

p.I37T

c.110T>C

3 papers

NM_018923.3

p.V58I

c.172G>A

1 paper

NM_018923.3

p.R59R

c.177G>T

1 paper

NM_018923.3

p.A63T

c.187G>A

1 paper

NM_018923.3

p.A63V

c.188C>T

1 paper

NM_018923.3

p.D91A

c.272A>C

1 paper

NM_018923.3

p.I122T

c.365T>C

1 paper

NM_018923.3

p.S145F

c.434C>T

1 paper

NM_018923.3

p.R169S

c.507A>C

1 paper

NM_018923.3

p.R169S

c.507A>T