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.E583D

c.1749G>C

Surrounding Variants

1 paper

NM_018924.5

p.E583D

c.1749G>T

1 paper

NM_018924.5

p.R580H

c.1739G>A

1 paper

NM_018924.5

p.T589S

c.1765A>T

1 paper

NM_018924.5

p.T589S

c.1766C>G

1 paper

NM_018924.5

p.D576N

c.1726G>A

1 paper

NM_018924.5

p.L563P

c.1688T>C

1 paper

NM_018924.5

p.D553G

c.1658A>G

1 paper

NM_018924.5

p.R549H

c.1646G>A

1 paper

NM_018924.5

p.V546G

c.1637T>G

1 paper

NM_018924.5

p.N545K

c.1635C>A

1 paper

NM_018924.5

p.N545K

c.1635C>G

1 paper

NM_018924.5

p.V626M

c.1876G>A