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.Y670S

c.2009A>C

Surrounding Variants

1 paper

NM_018935.4

p.Q680E

c.2038C>G

3 papers

NM_018935.4

p.D684Y

c.2050G>T

1 paper

NM_018935.4

p.L686R

c.2057T>G

1 paper

NM_018935.4

p.L702L

c.2106C>T

1 paper

NM_018935.4

p.K637E

c.1909A>G

1 paper

NM_018935.4

p.R633R

c.1899C>T

1 paper

NM_018935.4

p.R625H

c.1874G>A

1 paper

NM_018935.4

p.R625L

c.1874G>T

2 papers

NM_018935.4

p.A719V

c.2156C>T

1 paper

NM_018935.4

p.P728P

c.2184C>T

1 paper

NM_018935.4

p.G730D

c.2189G>A

1 paper

NM_018935.4

p.P731S

c.2191C>T