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.V444I

c.1330G>A

Surrounding Variants

1 paper

NM_018935.4

p.A448T

c.1342G>A

1 paper

NM_018935.4

p.I437V

c.1309A>G

1 paper

NM_018935.4

p.Q435R

c.1304A>G

1 paper

NM_018935.4

p.D425V

c.1274A>T

3 papers

NM_018935.4

p.S474R

c.1420A>C

1 paper

NM_018935.4

p.S474_A475delins

c.1420_1425delinsCGCGCA

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.R478T

c.1433G>C

1 paper

NM_018935.4

p.V404G

c.1211T>G

3 papers

NM_018935.4

p.L491P

c.1472T>C

1 paper

NM_018935.4

p.P496L

c.1487C>T