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.E632*

c.1894G>T

Surrounding Variants

1 paper

NM_018940.4

p.D634Y

c.1900G>T

1 paper

NM_018940.4

p.A635T

c.1903G>A

1 paper

NM_018940.4

p.A635E

c.1904C>A

1 paper

NM_018940.4

p.E623K

c.1867G>A

1 paper

NM_018940.4

p.H620N

c.1858C>A

1 paper

NM_018940.4

p.P650L

c.1949C>T

1 paper

NM_018940.4

p.R672W

c.2014C>T

1 paper

NM_018940.4

p.A591A

c.1773G>C

1 paper

NM_018940.4

p.L673V

c.2017C>G

1 paper

NM_018940.4

p.D679N

c.2035G>A

1 paper

NM_018940.4

p.R578R

c.1732C>A

1 paper

NM_018940.4

p.L576V

c.1726T>G