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

4 papers

NM_018940.4

p.V689L

c.2065G>T

Surrounding Variants

4 papers

NM_018940.4

p.V689L

c.2065G>C

1 paper

NM_018940.4

p.A691V

c.2072C>T

1 paper

NM_018940.4

p.D679N

c.2035G>A

1 paper

NM_018940.4

p.L673V

c.2017C>G

1 paper

NM_018940.4

p.R672W

c.2014C>T

1 paper

NM_018940.4

p.R710P

c.2129G>C

1 paper

NM_018940.4

p.R714K

c.2141G>A

2 papers

NM_018940.4

p.R716W

c.2146A>T

1 paper

NM_018940.4

p.A717V

c.2150C>T

1 paper

NM_018940.4

p.R722C

c.2164C>T

1 paper

NM_018940.4

p.E727Q

c.2179G>C

1 paper

NM_018940.4

p.P650L

c.1949C>T