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

1 paper

NM_015669.5

p.L490Q

c.1469T>A

Surrounding Variants

1 paper

NM_015669.5

p.P491P

c.1473G>A

1 paper

NM_015669.5

p.L499L

c.1497C>T

1 paper

NM_015669.5

p.A514V

c.1541C>T

1 paper

NM_015669.5

p.R516K

c.1547G>A

1 paper

NM_015669.5

p.R535C

c.1603C>T

1 paper

NM_015669.5

p.I420V

c.1258A>G

1 paper

NM_015669.5

p.L561Q

c.1682T>A

1 paper

NM_015669.5

p.E415*

c.1243G>T

1 paper

NM_015669.5

p.N566N

c.1698C>T

1 paper

NM_015669.5

p.L402P

c.1205T>C

1 paper

NM_015669.5

p.E580K

c.1738G>A

1 paper

NM_015669.5

p.L391F

c.1171C>T