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

3 papers

NM_018939.4

p.V34I

c.100G>A

Surrounding Variants

1 paper

NM_018939.4

p.E39G

c.116A>G

1 paper

NM_018939.4

p.I17L

c.49A>C

2 papers

NM_018939.4

p.A63T

c.187G>A

1 paper

NM_018939.4

p.M1I

c.3G>A

1 paper

NM_018939.4

p.M1I

c.3G>C

1 paper

NM_018939.4

p.M1I

c.3G>T

1 paper

NM_018939.4

p.R71K

c.212G>A

1 paper

NM_018939.4

p.Q72del1

c.214_215delCAA

1 paper

NM_018939.4

p.P104P

c.312T>A

1 paper

NM_018939.4

p.D158V

c.473A>T

1 paper

NM_018939.4

p.D158E

c.474T>A

1 paper

NM_018939.4

p.R184C

c.550C>T