Varaico: Literature-Extracted Genetic Variants

PCDHB13

84 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 31–113UCSCCadherin-like

Cadherinaa 140–234UCSCCadherin domain

Cadherinaa 248–339UCSCCadherin domain

Cadherinaa 353–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 13

HGNC Alias Symbol

PCDH-BETA13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018933.4

p.V504A

c.1511T>C

Surrounding Variants

1 paper

NM_018933.4

p.P493S

c.1477C>T

1 paper

NM_018933.4

p.Y488C

c.1463A>G

1 paper

NM_018933.4

p.T487I

c.1460C>T

1 paper

NM_018933.4

p.Q528*

c.1582C>T

1 paper

NM_018933.4

p.R530H

c.1589G>A

1 paper

NM_018933.4

p.R478T

c.1433G>C

1 paper

NM_018933.4

p.G532S

c.1594G>A

1 paper

NM_018933.4

p.S474R

c.1422C>A

1 paper

NM_018933.4

p.S474R

c.1422C>G

1 paper

NM_018933.4

p.S474R

c.1420A>C

1 paper

NM_018933.4

p.R471G

c.1411C>G

1 paper

NM_018933.4

p.N464H

c.1390A>C