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.D388V

c.1163A>T

Surrounding Variants

1 paper

NM_018931.3

p.L389I

c.1165C>A

1 paper

NM_018931.3

p.P386L

c.1157C>T

1 paper

NM_018931.3

p.V382V

c.1146T>A

1 paper

NM_018931.3

p.G379E

c.1136G>A

1 paper

NM_018931.3

p.G379R

c.1135G>A

1 paper

NM_018931.3

p.G379R

c.1135G>C

1 paper

NM_018931.3

p.G376V

c.1127G>T

1 paper

NM_018931.3

p.E404K

c.1210G>A

1 paper

NM_018931.3

p.E406_R407delFs

c.1218_1221del4

1 paper

NM_018931.3

p.F368delFs

c.1104delT

1 paper

NM_018931.3

p.V364M

c.1090G>A

1 paper

NM_018931.3

p.T363T

c.1089C>T