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

1–12 of 88 variants

5 papers

NM_018931.3

p.G532S

c.1594G>A

2 papers

NM_018931.3

p.E434K

c.1300G>A

2 papers

NM_018931.3

p.P449A

c.1345C>G

2 papers

NM_018931.3

p.R461R

c.1383C>T

2 papers

NM_018931.3

p.R625S

c.1873C>A

1 paper

NM_018931.3

p.Q4R

c.11A>G

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