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.G22E

c.65G>A

Surrounding Variants

1 paper

NM_018940.4

p.E29K

c.85G>A

1 paper

NM_018940.4

p.A36V

c.107C>T

1 paper

NM_018940.4

p.R7H

c.20G>A

1 paper

NM_018940.4

p.G55V

c.164G>T

1 paper

NM_018940.4

p.G57E

c.170G>A

1 paper

NM_018940.4

p.E58G

c.173A>G

1 paper

NM_018940.4

p.E58V

c.173A>T

1 paper

NM_018940.4

p.T64N

c.191C>A

1 paper

NM_018940.4

p.R99*

c.295A>T

2 papers

NM_018940.4

p.E120K

c.358G>A

1 paper

NM_018940.4

p.L140F

c.420G>C

1 paper

NM_018940.4

p.L140F

c.420G>T