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

Selected Variant

4 papers

NM_018939.4

p.T585I

c.1754C>T

Surrounding Variants

1 paper

NM_018939.4

p.A589V

c.1766C>T

1 paper

NM_018939.4

p.R576W

c.1726C>T

1 paper

NM_018939.4

p.L573M

c.1717C>A

1 paper

NM_018939.4

p.T608ins2

c.1822_1823ins6

1 paper

NM_018939.4

p.P562L

c.1685C>T

1 paper

NM_018939.4

p.S556*

c.1667C>A

1 paper

NM_018939.4

p.S556L

c.1667C>T

1 paper

NM_018939.4

p.E621G

c.1862A>G

3 papers

NM_018939.4

p.A543V

c.1628C>T

1 paper

NM_018939.4

p.G535C

c.1603G>T

2 papers

NM_018939.4

p.H636Q

c.1908C>A

2 papers

NM_018939.4

p.H636Q

c.1908C>G