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.L317*

c.950T>G

Surrounding Variants

1 paper

NM_018940.4

p.L317*

c.950T>A

1 paper

NM_018940.4

p.G325C

c.973G>T

1 paper

NM_018940.4

p.G326R

c.976G>A

1 paper

NM_018940.4

p.T332S

c.994A>T

1 paper

NM_018940.4

p.T332S

c.995C>G

1 paper

NM_018940.4

p.D339H

c.1015G>C

1 paper

NM_018940.4

p.N341N

c.1023C>T

3 papers

NM_018940.4

p.D342N

c.1024G>A

1 paper

NM_018940.4

p.R287I

c.860G>T

1 paper

NM_018940.4

p.S354R

c.1060A>C

1 paper

NM_018940.4

p.S354R

c.1062C>A

1 paper

NM_018940.4

p.S354R

c.1062C>G