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.T268M

c.803C>T

Surrounding Variants

1 paper

NM_018933.4

p.N275K

c.825C>A

1 paper

NM_018933.4

p.N275K

c.825C>G

8 papers

NM_018933.4

p.G259S

c.775G>A

6 papers

NM_018933.4

p.V258I

c.772G>A

1 paper

NM_018933.4

p.V258_G259delins

c.772_775delinsATAA

1 paper

NM_018933.4

p.P257_G259delins

c.771_775delinsAATAA

1 paper

NM_018933.4

p.R249S

c.747A>C

1 paper

NM_018933.4

p.R249R

c.747A>G

1 paper

NM_018933.4

p.R249S

c.747A>T

1 paper

NM_018933.4

p.P297S

c.889C>T

1 paper

NM_018933.4

p.D238N

c.712G>A

1 paper

NM_018933.4

p.I302insFs

c.904_905dupAT