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.A718T

c.2152G>A

Surrounding Variants

3 papers

NM_015669.5

p.P720S

c.2158C>T

1 paper

NM_015669.5

p.R723H

c.2168G>A

1 paper

NM_015669.5

p.L699F

c.2095C>T

1 paper

NM_015669.5

p.Y748fs

c.2242_2243fs

1 paper

NM_015669.5

p.Y748delFs

c.2243delA

1 paper

NM_015669.5

p.H749N

c.2245C>A

1 paper

NM_015669.5

p.E751K

c.2251G>A

1 paper

NM_015669.5

p.S684*

c.2051C>A

1 paper

NM_015669.5

p.A678G

c.2033C>G

1 paper

NM_015669.5

p.P673R

c.2018C>G

1 paper

NM_015669.5

p.L672L

c.2016G>T

1 paper

NM_015669.5

p.L670V

c.2008C>G