Varaico: Literature-Extracted Genetic Variants

PCDHB4

90 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 29–111UCSCCadherin-like

Cadherinaa 138–232UCSCCadherin domain

Cadherinaa 246–337UCSCCadherin domain

Cadherinaa 351–441UCSCCadherin domain

Cadherinaa 455–551UCSCCadherin domain

Cadherinaa 574–662UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 4

HGNC Alias Symbol

PCDH-BETA4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018938.4

p.L199L

c.597G>A

Surrounding Variants

1 paper

NM_018938.4

p.D200G

c.599A>G

1 paper

NM_018938.4

p.R201Q

c.602G>A

1 paper

NM_018938.4

p.V194V

c.582G>T

1 paper

NM_018938.4

p.H176fs

c.526_527fs

1 paper

NM_018938.4

p.S175_H176insG

c.523_527ins3

1 paper

NM_018938.4

p.Y169*

c.507C>A

1 paper

NM_018938.4

p.Y169*

c.507C>G

4 papers

NM_018938.4

p.Q167L

c.500A>T

1 paper

NM_018938.4

p.D158Y

c.472G>T

1 paper

NM_018938.4

p.E157K

c.469G>A

1 paper

NM_018938.4

p.Q249H

c.747G>C

1 paper

NM_018938.4

p.Q249H

c.747G>T