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

2 papers

NM_018923.3

p.E523Q

c.1567G>C

Surrounding Variants

1 paper

NM_018923.3

p.A516V

c.1547C>T

1 paper

NM_018923.3

p.R535S

c.1603C>A

1 paper

NM_018923.3

p.A509V

c.1526C>T

1 paper

NM_018923.3

p.A544T

c.1630G>A

2 papers

NM_018923.3

p.R499W

c.1495C>T

2 papers

NM_018923.3

p.R549C

c.1645C>T

1 paper

NM_018923.3

p.V550M

c.1648G>A

2 papers

NM_018923.3

p.A559V

c.1676C>T

1 paper

NM_018923.3

p.P565P

c.1695C>T

1 paper

NM_018923.3

p.A566V

c.1697C>T

1 paper

NM_018923.3

p.S477S

c.1431T>C

1 paper

NM_018923.3

p.I471I

c.1413C>T