Varaico: Literature-Extracted Genetic Variants

PCDHB1

70 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 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 577–664UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 1

HGNC Alias Symbol

PCDH-BETA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_013340.4

p.F778L

c.2332T>C

Surrounding Variants

2 papers

NM_013340.4

p.F778L

c.2334C>A

2 papers

NM_013340.4

p.F778L

c.2334C>G

1 paper

NM_013340.4

p.P776S

c.2326C>T

2 papers

NM_013340.4

p.R773H

c.2318G>A

1 paper

NM_013340.4

p.A783A

c.2349C>T

1 paper

NM_013340.4

p.R769H

c.2306G>A

1 paper

NM_013340.4

p.I787fs

c.2359_2360fs

1 paper

NM_013340.4

p.I787delFs

c.2361delA

1 paper

NM_013340.4

p.F768V

c.2302T>G

1 paper

NM_013340.4

p.A760G

c.2279C>G

1 paper

NM_013340.4

p.R751Q

c.2252G>A

1 paper

NM_013340.4

p.R751W

c.2251C>T