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.K407N

c.1221A>T

Surrounding Variants

1 paper

NM_018940.4

p.K407N

c.1221A>C

1 paper

NM_018940.4

p.P408L

c.1223C>T

1 paper

NM_018940.4

p.R411*

c.1231C>T

1 paper

NM_018940.4

p.T402S

c.1205C>G

1 paper

NM_018940.4

p.T402S

c.1204A>T

1 paper

NM_018940.4

p.Y417_N418del1

c.1250_1252delACA

1 paper

NM_018940.4

p.Y417_N418delFs

c.1250_1253del4

1 paper

NM_018940.4

p.E398K

c.1192G>A

1 paper

NM_018940.4

p.V397V

c.1191C>T

1 paper

NM_018940.4

p.D425N

c.1273G>A

3 papers

NM_018940.4

p.V389L

c.1165G>C

1 paper

NM_018940.4

p.G427V

c.1280G>T