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.V460I

c.1378G>A

Surrounding Variants

2 papers

NM_018931.3

p.R461R

c.1383C>T

1 paper

NM_018931.3

p.N464S

c.1391A>G

1 paper

NM_018931.3

p.F451S

c.1352T>C

1 paper

NM_018931.3

p.T450T

c.1350C>A

1 paper

NM_018931.3

p.P449R

c.1346C>G

2 papers

NM_018931.3

p.P449A

c.1345C>G

1 paper

NM_018931.3

p.A475A

c.1425T>C

1 paper

NM_018931.3

p.V444I

c.1330G>A

1 paper

NM_018931.3

p.D477H

c.1429G>C

1 paper

NM_018931.3

p.Q485*

c.1453C>T

2 papers

NM_018931.3

p.E434K

c.1300G>A

1 paper

NM_018931.3

p.I428T

c.1283T>C