Varaico: Literature-Extracted Genetic Variants

PCDHB3

91 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 3

HGNC Alias Symbol

PCDH-BETA3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 116 variants

5 papers

NM_018937.5

p.R414S

c.1242A>T

4 papers

NM_018937.5

p.K41R

c.122A>G

4 papers

NM_018937.5

p.T81I

c.242C>T

4 papers

NM_018937.5

p.E207K

c.619G>A

4 papers

NM_018937.5

p.R414S

c.1242A>C

2 papers

NM_018937.5

p.A61V

c.182C>T

2 papers

NM_018937.5

p.N71K

c.213C>G

2 papers

NM_018937.5

p.E93K

c.277G>A

2 papers

NM_018937.5

p.Q115Q

c.345A>G

2 papers

NM_018937.5

p.P202R

c.605C>G

2 papers

NM_018937.5

p.N236N

c.708C>T

2 papers

NM_018937.5

p.R461H

c.1382G>A