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.G163R

c.487G>C

Surrounding Variants

1 paper

NM_018931.3

p.G163R

c.487G>A

1 paper

NM_018931.3

p.V162A

c.485T>C

1 paper

NM_018931.3

p.F152V

c.454T>G

1 paper

NM_018931.3

p.V151V

c.453G>T

1 paper

NM_018931.3

p.P192H

c.575C>A

1 paper

NM_018931.3

p.S130insFs

c.390dupT

1 paper

NM_018931.3

p.H129R

c.386A>G

1 paper

NM_018931.3

p.F210V

c.628T>G

1 paper

NM_018931.3

p.L215M

c.643C>A

1 paper

NM_018931.3

p.M110I

c.330G>A

1 paper

NM_018931.3

p.D216E

c.648T>A

1 paper

NM_018931.3

p.D216E

c.648T>G