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.G224R

c.670G>C

Surrounding Variants

1 paper

NM_015669.5

p.G224R

c.670G>A

1 paper

NM_015669.5

p.R222S

c.666G>C

1 paper

NM_015669.5

p.R222S

c.666G>T

1 paper

NM_015669.5

p.P220Q

c.659C>A

1 paper

NM_015669.5

p.P220L

c.659C>T

1 paper

NM_015669.5

p.V232I

c.694G>A

1 paper

NM_015669.5

p.D234H

c.700G>C

1 paper

NM_015669.5

p.A239T

c.715G>A

1 paper

NM_015669.5

p.A239fs

c.715_716fs

3 papers

NM_015669.5

p.R202Q

c.605G>A

1 paper

NM_015669.5

p.D201N

c.601G>A

1 paper

NM_015669.5

p.Q250R

c.749A>G