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

2 papers

NM_018938.4

p.T481I

c.1442C>T

Surrounding Variants

1 paper

NM_018938.4

p.Q484R

c.1451A>G

3 papers

NM_018938.4

p.A474A

c.1422C>A

6 papers

NM_018938.4

p.S473R

c.1419C>A

6 papers

NM_018938.4

p.S473R

c.1419C>G

6 papers

NM_018938.4

p.S473R

c.1417A>C

1 paper

NM_018938.4

p.L490P

c.1469T>C

1 paper

NM_018938.4

p.P491L

c.1472C>T

1 paper

NM_018938.4

p.G470R

c.1408G>C

4 papers

NM_018938.4

p.A500T

c.1498G>A

2 papers

NM_018938.4

p.R460R

c.1380C>T

1 paper

NM_018938.4

p.V459L

c.1375G>C

1 paper

NM_018938.4

p.V459fs

c.1375_1376fs