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

1–12 of 129 variants

4 papers

NM_018940.4

p.E632*

c.1894G>T

4 papers

NM_018940.4

p.V689L

c.2065G>C

4 papers

NM_018940.4

p.V689L

c.2065G>T

3 papers

NM_018940.4

p.D342N

c.1024G>A

3 papers

NM_018940.4

p.V389L

c.1165G>C

2 papers

NM_018940.4

p.E120K

c.358G>A

2 papers

NM_018940.4

p.D184E

c.552T>A

2 papers

NM_018940.4

p.D184E

c.552T>G

2 papers

NM_018940.4

p.V228M

c.682G>A

2 papers

NM_018940.4

p.G471R

c.1411G>C

2 papers

NM_018940.4

p.S568G

c.1702A>G

2 papers

NM_018940.4

p.R716W

c.2146A>T