Varaico: Literature-Extracted Genetic Variants

PCDHB11

79 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 30–112UCSCCadherin-like

Cadherinaa 139–233UCSCCadherin domain

Cadherinaa 247–339UCSCCadherin domain

Cadherinaa 352–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 11

HGNC Alias Symbol

PCDH-BETA11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018931.3

p.Q4R

c.11A>G

Surrounding Variants

1 paper

NM_018931.3

p.R7H

c.20G>A

1 paper

NM_018931.3

p.V14I

c.40G>A

1 paper

NM_018931.3

p.R62W

c.184C>T

1 paper

NM_018931.3

p.R62Q

c.185G>A

1 paper

NM_018931.3

p.Q76R

c.227A>G

1 paper

NM_018931.3

p.D78E

c.234C>A

1 paper

NM_018931.3

p.D78E

c.234C>G

1 paper

NM_018931.3

p.V103V

c.309G>C

1 paper

NM_018931.3

p.L104R

c.311T>G

1 paper

NM_018931.3

p.V108L

c.322G>C

1 paper

NM_018931.3

p.V108L

c.322G>T

1 paper

NM_018931.3

p.M110I

c.330G>A