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

3 papers

NM_018935.4

p.L491P

c.1472T>C

Surrounding Variants

1 paper

NM_018935.4

p.P496L

c.1487C>T

1 paper

NM_018935.4

p.R478T

c.1433G>C

3 papers

NM_018935.4

p.S474R

c.1422C>A

3 papers

NM_018935.4

p.S474R

c.1422C>G

1 paper

NM_018935.4

p.T508M

c.1523C>T

3 papers

NM_018935.4

p.S474R

c.1420A>C

1 paper

NM_018935.4

p.S474_A475delins

c.1420_1425delinsCGCGCA

1 paper

NM_018935.4

p.G511R

c.1531G>C

4 papers

NM_018935.4

p.Y521H

c.1561T>C

1 paper

NM_018935.4

p.E522D

c.1566G>C

1 paper

NM_018935.4

p.E522D

c.1566G>T

1 paper

NM_018935.4

p.L524L

c.1572G>A