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.R651H

c.1952G>A

Surrounding Variants

2 papers

NM_015669.5

p.R651C

c.1951C>T

1 paper

NM_015669.5

p.S652L

c.1955C>T

1 paper

NM_015669.5

p.L670V

c.2008C>G

1 paper

NM_015669.5

p.L672L

c.2016G>T

1 paper

NM_015669.5

p.P673R

c.2018C>G

1 paper

NM_015669.5

p.A678G

c.2033C>G

1 paper

NM_015669.5

p.A618A

c.1854G>A

1 paper

NM_015669.5

p.S684*

c.2051C>A

1 paper

NM_015669.5

p.F614L

c.1842C>A

1 paper

NM_015669.5

p.F614L

c.1842C>G

1 paper

NM_015669.5

p.F614L

c.1840T>C

1 paper

NM_015669.5

p.T609M

c.1826C>T