Varaico: Literature-Extracted Genetic Variants

PCDHB12

97 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 139–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 576–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 12

HGNC Alias Symbol

PCDH-BETA12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018932.4

p.G379R

c.1135G>A

Surrounding Variants

2 papers

NM_018932.4

p.G379R

c.1135G>C

1 paper

NM_018932.4

p.G379E

c.1136G>A

2 papers

NM_018932.4

p.R371*

c.1111C>T

1 paper

NM_018932.4

p.D388Y

c.1162G>T

1 paper

NM_018932.4

p.V367A

c.1100T>C

1 paper

NM_018932.4

p.V392M

c.1174G>A

1 paper

NM_018932.4

p.T363I

c.1088C>T

1 paper

NM_018932.4

p.V397I

c.1189G>A

1 paper

NM_018932.4

p.P357L

c.1070C>T

1 paper

NM_018932.4

p.S354G

c.1060A>G

1 paper

NM_018932.4

p.A344D

c.1031C>A

1 paper

NM_018932.4

p.R414K

c.1241G>A