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

2 papers

NM_018940.4

p.G471R

c.1411G>C

Surrounding Variants

1 paper

NM_018940.4

p.P469H

c.1406C>A

1 paper

NM_018940.4

p.N464S

c.1391A>G

1 paper

NM_018940.4

p.S480S

c.1440G>A

1 paper

NM_018940.4

p.A484T

c.1450G>A

1 paper

NM_018940.4

p.S455F

c.1364C>T

1 paper

NM_018940.4

p.Y488*

c.1464C>A

1 paper

NM_018940.4

p.Y488*

c.1464C>G

1 paper

NM_018940.4

p.S489Y

c.1466C>A

1 paper

NM_018940.4

p.S489F

c.1466C>T

1 paper

NM_018940.4

p.A450V

c.1349C>T

1 paper

NM_018940.4

p.V444I

c.1330G>A

1 paper

NM_018940.4

p.D443N

c.1327G>A