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

1–12 of 96 variants

4 papers

NM_018935.4

p.Y521H

c.1561T>C

3 papers

NM_018935.4

p.S474R

c.1420A>C

3 papers

NM_018935.4

p.S474R

c.1422C>A

3 papers

NM_018935.4

p.S474R

c.1422C>G

3 papers

NM_018935.4

p.L491P

c.1472T>C

3 papers

NM_018935.4

p.D684Y

c.2050G>T

2 papers

NM_018935.4

p.R65Q

c.194G>A

2 papers

NM_018935.4

p.L95M

c.283C>A

2 papers

NM_018935.4

p.G324A

c.971G>C

2 papers

NM_018935.4

p.L552M

c.1654C>A

2 papers

NM_018935.4

p.L585P

c.1754T>C

2 papers

NM_018935.4

p.Y670S

c.2009A>C