Varaico: Literature-Extracted Genetic Variants

PCDHGB3

60 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 577–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 3

HGNC Alias Symbol

PCDH-GAMMA-B3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018924.5

p.V707M

c.2119G>A

Surrounding Variants

1 paper

NM_018924.5

p.L702R

c.2105T>G

2 papers

NM_018924.5

p.L715M

c.2143C>A

1 paper

NM_018924.5

p.R716Q

c.2147G>A

1 paper

NM_018924.5

p.A695V

c.2084C>T

1 paper

NM_018924.5

p.P681L

c.2042C>T

2 papers

NM_018924.5

p.D677N

c.2029G>A

1 paper

NM_018924.5

p.R647C

c.1939C>T

1 paper

NM_018924.5

p.L768I

c.2302C>A

1 paper

NM_018924.5

p.L768delFs

c.2304delC

1 paper

NM_018924.5

p.E636K

c.1906G>A

1 paper

NM_018924.5

p.R635S

c.1905G>C

1 paper

NM_018924.5

p.R635S

c.1905G>T