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

1 paper

NM_018932.4

p.G427R

c.1279G>C

Surrounding Variants

1 paper

NM_018932.4

p.G427R

c.1279G>A

1 paper

NM_018932.4

p.V423I

c.1267G>A

1 paper

NM_018932.4

p.T420I

c.1259C>T

1 paper

NM_018932.4

p.R414K

c.1241G>A

1 paper

NM_018932.4

p.D446N

c.1336G>A

1 paper

NM_018932.4

p.N447N

c.1341C>T

1 paper

NM_018932.4

p.P449L

c.1346C>T

1 paper

NM_018932.4

p.V397I

c.1189G>A

1 paper

NM_018932.4

p.V392M

c.1174G>A

1 paper

NM_018932.4

p.D388Y

c.1162G>T

1 paper

NM_018932.4

p.H469Q

c.1407C>A

1 paper

NM_018932.4

p.H469Q

c.1407C>G