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.D555H

c.1663G>C

Surrounding Variants

2 papers

NM_018938.4

p.T553A

c.1657A>G

1 paper

NM_018938.4

p.V560M

c.1678G>A

1 paper

NM_018938.4

p.V560L

c.1678G>C

1 paper

NM_018938.4

p.V560L

c.1678G>T

1 paper

NM_018938.4

p.A569S

c.1705G>T

1 paper

NM_018938.4

p.S537S

c.1611T>C

2 papers

NM_018938.4

p.S533T

c.1597T>A

1 paper

NM_018938.4

p.R529H

c.1586G>A

2 papers

NM_018938.4

p.A525A

c.1575G>T

2 papers

NM_018938.4

p.A525E

c.1574C>A

1 paper

NM_018938.4

p.E521G

c.1562A>G

1 paper

NM_018938.4

p.A507T

c.1519G>A