Varaico: Literature-Extracted Genetic Variants

PCDHB5

73 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 247–337UCSCCadherin domain

Cadherinaa 352–441UCSCCadherin domain

Cadherinaa 455–551UCSCCadherin domain

Cadherinaa 574–662UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 5

HGNC Alias Symbols

DKFZp586B0217; PCDH-BETA5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015669.5

p.L281Q

c.842T>A

Surrounding Variants

1 paper

NM_015669.5

p.L281P

c.842T>C

1 paper

NM_015669.5

p.G272A

c.815G>C

1 paper

NM_015669.5

p.V263F

c.787G>T

1 paper

NM_015669.5

p.S259C

c.776C>G

1 paper

NM_015669.5

p.E309E

c.927G>A

1 paper

NM_015669.5

p.Q250R

c.749A>G

1 paper

NM_015669.5

p.Y313H

c.937T>C

1 paper

NM_015669.5

p.V316L

c.946G>C

1 paper

NM_015669.5

p.V316L

c.946G>T

1 paper

NM_015669.5

p.V319L

c.955G>C

1 paper

NM_015669.5

p.V319L

c.955G>T

1 paper

NM_015669.5

p.A239T

c.715G>A