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

3 papers

NM_018938.4

p.P255delins

c.763_764delinsTT

Surrounding Variants

2 papers

NM_018938.4

p.P255S

c.763C>T

1 paper

NM_018938.4

p.P255L

c.764C>T

2 papers

NM_018938.4

p.S258C

c.773C>G

1 paper

NM_018938.4

p.Q249H

c.747G>C

1 paper

NM_018938.4

p.Q249H

c.747G>T

1 paper

NM_018938.4

p.F273L

c.817T>C

1 paper

NM_018938.4

p.F273L

c.819C>A

1 paper

NM_018938.4

p.F273L

c.819C>G

1 paper

NM_018938.4

p.D285H

c.853G>C

1 paper

NM_018938.4

p.T297T

c.891G>A

1 paper

NM_018938.4

p.K305insFs

c.915dupA

5 papers

NM_018938.4

p.K305delFs

c.915delA