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.N165S

c.494A>G

Surrounding Variants

1 paper

NM_018924.5

p.A157V

c.470C>T

1 paper

NM_018924.5

p.A157P

c.469G>C

1 paper

NM_018924.5

p.S179C

c.536C>G

1 paper

NM_018924.5

p.E184D

c.552G>C

1 paper

NM_018924.5

p.E184D

c.552G>T

1 paper

NM_018924.5

p.E144fs

c.430_431fs

1 paper

NM_018924.5

p.E144delFs

c.431delA

1 paper

NM_018924.5

p.L196M

c.586C>A

1 paper

NM_018924.5

p.R202M

c.605G>T

1 paper

NM_018924.5

p.N127S

c.380A>G

1 paper

NM_018924.5

p.N127D

c.379A>G

1 paper

NM_018924.5

p.E204K

c.610G>A