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

1–12 of 90 variants

2 papers

NM_013340.4

p.R79S

c.235C>A

2 papers

NM_013340.4

p.T263M

c.788C>T

2 papers

NM_013340.4

p.V474F

c.1420G>T

2 papers

NM_013340.4

p.R773H

c.2318G>A

2 papers

NM_013340.4

p.F778L

c.2332T>C

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.A2V

c.5C>T

1 paper

NM_013340.4

p.A2A

c.6G>A

1 paper

NM_013340.4

p.Y33D

c.97T>G

1 paper

NM_013340.4

p.E37Q

c.109G>C

1 paper

NM_013340.4

p.E38K

c.112G>A