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.I319fs

c.955_956fs

Surrounding Variants

1 paper

NM_018931.3

p.G326fs

c.976_977fs

1 paper

NM_018931.3

p.F328fs

c.982_983fs

1 paper

NM_018931.3

p.T348S

c.1042A>T

1 paper

NM_018931.3

p.T348S

c.1043C>G

1 paper

NM_018931.3

p.R289S

c.865C>A

1 paper

NM_018931.3

p.S282F

c.845C>T

1 paper

NM_018931.3

p.E362Q

c.1084G>C

1 paper

NM_018931.3

p.E362E

c.1086G>A

1 paper

NM_018931.3

p.T363T

c.1089C>T

1 paper

NM_018931.3

p.V364M

c.1090G>A

1 paper

NM_018931.3

p.F368delFs

c.1104delT

1 paper

NM_018931.3

p.G376V

c.1127G>T