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

2 papers

NM_018924.5

p.N389K

c.1167C>G

Surrounding Variants

2 papers

NM_018924.5

p.N389K

c.1167C>A

1 paper

NM_018924.5

p.L386P

c.1157T>C

1 paper

NM_018924.5

p.V395I

c.1183G>A

1 paper

NM_018924.5

p.Q396H

c.1188A>C

1 paper

NM_018924.5

p.Q396H

c.1188A>T

1 paper

NM_018924.5

p.T398N

c.1193C>A

1 paper

NM_018924.5

p.T371fs

c.1111_1112fs

1 paper

NM_018924.5

p.T328S

c.983C>G

1 paper

NM_018924.5

p.T328S

c.982A>T

1 paper

NM_018924.5

p.A321V

c.962C>T

1 paper

NM_018924.5

p.L481F

c.1443G>C

1 paper

NM_018924.5

p.L481F

c.1443G>T