Varaico: Literature-Extracted Genetic Variants

PCDHB5

73 papers

RefSeq Summary

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization simil...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 139–233UCSCCadherin domain

Cadherinaa 247–337UCSCCadherin domain

Cadherinaa 352–441UCSCCadherin domain

Cadherinaa 455–551UCSCCadherin domain

Cadherinaa 574–662UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 5

HGNC Alias Symbols

DKFZp586B0217; PCDH-BETA5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015669.5

p.G375V

c.1124G>T

Surrounding Variants

1 paper

NM_015669.5

p.S374F

c.1121C>T

1 paper

NM_015669.5

p.L391F

c.1171C>T

1 paper

NM_015669.5

p.E357K

c.1069G>A

1 paper

NM_015669.5

p.T355fs

c.1063_1064fs

1 paper

NM_015669.5

p.T355delFs

c.1064delC

1 paper

NM_015669.5

p.L402P

c.1205T>C

1 paper

NM_015669.5

p.E415*

c.1243G>T

1 paper

NM_015669.5

p.I420V

c.1258A>G

1 paper

NM_015669.5

p.V319L

c.955G>C

1 paper

NM_015669.5

p.V319L

c.955G>T

1 paper

NM_015669.5

p.V316L

c.946G>C

1 paper

NM_015669.5

p.V316L

c.946G>T