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

1–12 of 100 variants

6 papers

NM_018938.4

p.S473R

c.1417A>C

6 papers

NM_018938.4

p.S473R

c.1419C>A

6 papers

NM_018938.4

p.S473R

c.1419C>G

5 papers

NM_018938.4

p.K305delFs

c.915delA

4 papers

NM_018938.4

p.Q167L

c.500A>T

4 papers

NM_018938.4

p.A500T

c.1498G>A

3 papers

NM_018938.4

p.P255delins

c.763_764delinsTT

3 papers

NM_018938.4

p.A421T

c.1261G>A

3 papers

NM_018938.4

p.A474A

c.1422C>A

3 papers

NM_018938.4

p.D555H

c.1663G>C

2 papers

NM_018938.4

p.I141L

c.421A>T

2 papers

NM_018938.4

p.P147L

c.440C>T