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.D374H

c.1120G>C

Surrounding Variants

1 paper

NM_018940.4

p.D374E

c.1122T>A

1 paper

NM_018940.4

p.D374E

c.1122T>G

1 paper

NM_018940.4

p.G376R

c.1126G>A

1 paper

NM_018940.4

p.G376R

c.1126G>C

1 paper

NM_018940.4

p.G376G

c.1128G>A

3 papers

NM_018940.4

p.V389L

c.1165G>C

1 paper

NM_018940.4

p.I356T

c.1067T>C

1 paper

NM_018940.4

p.S354R

c.1062C>A

1 paper

NM_018940.4

p.S354R

c.1062C>G

1 paper

NM_018940.4

p.S354R

c.1060A>C

1 paper

NM_018940.4

p.V397V

c.1191C>T

1 paper

NM_018940.4

p.E398K

c.1192G>A