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.D386E

c.1158T>A

Surrounding Variants

1 paper

NM_018938.4

p.D386E

c.1158T>G

1 paper

NM_018938.4

p.L392I

c.1174C>A

1 paper

NM_018938.4

p.L392V

c.1174C>G

1 paper

NM_018938.4

p.G375V

c.1124G>T

1 paper

NM_018938.4

p.R368L

c.1103G>T

1 paper

NM_018938.4

p.R368delFs

c.1104delA

1 paper

NM_018938.4

p.R368fs

c.1102_1103fs

2 papers

NM_018938.4

p.R368*

c.1102C>T

1 paper

NM_018938.4

p.T362T

c.1086G>A

3 papers

NM_018938.4

p.A421T

c.1261G>A

1 paper

NM_018938.4

p.V422I

c.1264G>A

1 paper

NM_018938.4

p.G426E

c.1277G>A