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

1 paper

NM_018935.4

p.V337M

c.1009G>A

Surrounding Variants

1 paper

NM_018935.4

p.D339Y

c.1015G>T

1 paper

NM_018935.4

p.N341N

c.1023C>T

1 paper

NM_018935.4

p.D342N

c.1024G>A

1 paper

NM_018935.4

p.N343K

c.1029C>A

1 paper

NM_018935.4

p.N343K

c.1029C>G

1 paper

NM_018935.4

p.G329E

c.986G>A

1 paper

NM_018935.4

p.P345L

c.1034C>T

1 paper

NM_018935.4

p.L347I

c.1039C>A

2 papers

NM_018935.4

p.G324A

c.971G>C

1 paper

NM_018935.4

p.E362G

c.1085A>G

1 paper

NM_018935.4

p.R373G

c.1117C>G

1 paper

NM_018935.4

p.E300D

c.900A>C