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.V14L

c.40G>C

Surrounding Variants

1 paper

NM_015669.5

p.E29Q

c.85G>C

2 papers

NM_015669.5

p.E58K

c.172G>A

1 paper

NM_015669.5

p.R62W

c.184C>T

1 paper

NM_015669.5

p.R62Q

c.185G>A

1 paper

NM_015669.5

p.Y68C

c.203A>G

1 paper

NM_015669.5

p.K80M

c.239A>T

1 paper

NM_015669.5

p.G97R

c.289G>A

1 paper

NM_015669.5

p.G97R

c.289G>C

1 paper

NM_015669.5

p.G97G

c.291G>T

1 paper

NM_015669.5

p.A98V

c.293C>T

1 paper

NM_015669.5

p.E144K

c.430G>A

1 paper

NM_015669.5

p.Q168H

c.504G>C