Varaico: Literature-Extracted Genetic Variants

PCDHB15

77 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 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 353–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 15

HGNC Alias Symbol

PCDH-BETA15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018935.4

p.R65Q

c.194G>A

Surrounding Variants

1 paper

NM_018935.4

p.G63E

c.188G>A

1 paper

NM_018935.4

p.E58E

c.174G>A

1 paper

NM_018935.4

p.E72K

c.214G>A

1 paper

NM_018935.4

p.E88Q

c.262G>C

1 paper

NM_018935.4

p.R92P

c.275G>C

1 paper

NM_018935.4

p.E93*

c.277G>T

1 paper

NM_018935.4

p.M36T

c.107T>C

2 papers

NM_018935.4

p.L95M

c.283C>A

1 paper

NM_018935.4

p.L95P

c.284T>C

1 paper

NM_018935.4

p.G27D

c.80G>A

1 paper

NM_018935.4

p.V108V

c.324G>A

1 paper

NM_018935.4

p.K112N

c.336A>C