Varaico: Literature-Extracted Genetic Variants

PCDHB6

81 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 139–232UCSCCadherin domain

Cadherinaa 246–336UCSCCadherin domain

Cadherinaa 351–440UCSCCadherin domain

Cadherinaa 454–550UCSCCadherin domain

Cadherinaa 573–661UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 6

HGNC Alias Symbol

PCDH-BETA6

Papers

RefSeq ID

Protein change

DNA change

1–12 of 87 variants

4 papers

NM_018939.4

p.T585I

c.1754C>T

3 papers

NM_018939.4

p.V34I

c.100G>A

3 papers

NM_018939.4

p.V231I

c.691G>A

3 papers

NM_018939.4

p.A543V

c.1628C>T

2 papers

NM_018939.4

p.A63T

c.187G>A

2 papers

NM_018939.4

p.T418I

c.1253C>T

2 papers

NM_018939.4

p.T452I

c.1355C>T

2 papers

NM_018939.4

p.G530S

c.1588G>A

2 papers

NM_018939.4

p.H636Q

c.1908C>A

2 papers

NM_018939.4

p.H636Q

c.1908C>G

2 papers

NM_018939.4

p.R650C

c.1948C>T

2 papers

NM_018939.4

p.G776D

c.2327G>A