Varaico: Literature-Extracted Genetic Variants

PCDHB7

94 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 7

HGNC Alias Symbol

PCDH-BETA7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018940.4

p.F730F

c.2190T>C

Surrounding Variants

1 paper

NM_018940.4

p.R732G

c.2194C>G

1 paper

NM_018940.4

p.E727Q

c.2179G>C

1 paper

NM_018940.4

p.L737W

c.2210T>G

1 paper

NM_018940.4

p.R722C

c.2164C>T

1 paper

NM_018940.4

p.A717V

c.2150C>T

2 papers

NM_018940.4

p.R716W

c.2146A>T

2 papers

NM_018940.4

p.S746R

c.2236A>C

2 papers

NM_018940.4

p.S746R

c.2238C>A

2 papers

NM_018940.4

p.S746R

c.2238C>G

1 paper

NM_018940.4

p.R714K

c.2141G>A

1 paper

NM_018940.4

p.Y747*

c.2241C>A

1 paper

NM_018940.4

p.Y747*

c.2241C>G