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

2 papers

NM_018939.4

p.G776D

c.2327G>A

Surrounding Variants

1 paper

NM_018939.4

p.Q775*

c.2323C>T

1 paper

NM_018939.4

p.P767P

c.2301G>A

1 paper

NM_018939.4

p.R788W

c.2362C>T

1 paper

NM_018939.4

p.Q745*

c.2233C>T

1 paper

NM_018939.4

p.S744F

c.2231C>T

1 paper

NM_018939.4

p.G739S

c.2215G>A

1 paper

NM_018939.4

p.L734Q

c.2201T>A

1 paper

NM_018939.4

p.R722H

c.2165G>A

1 paper

NM_018939.4

p.V720E

c.2159T>A

1 paper

NM_018939.4

p.A708V

c.2123C>T

1 paper

NM_018939.4

p.V707M

c.2119G>A

1 paper

NM_018939.4

p.S694L

c.2081C>T