Varaico: Literature-Extracted Genetic Variants

PCDHB3

91 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 3

HGNC Alias Symbol

PCDH-BETA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018937.5

p.F368C

c.1103T>G

Surrounding Variants

1 paper

NM_018937.5

p.L373L

c.1119A>T

1 paper

NM_018937.5

p.S350F

c.1049C>T

1 paper

NM_018937.5

p.N341N

c.1023C>T

1 paper

NM_018937.5

p.G329E

c.986G>A

1 paper

NM_018937.5

p.G326C

c.976G>T

1 paper

NM_018937.5

p.G325fs

c.973_974fs

4 papers

NM_018937.5

p.R414S

c.1242A>C

5 papers

NM_018937.5

p.R414S

c.1242A>T

1 paper

NM_018937.5

p.I423M

c.1269C>G

1 paper

NM_018937.5

p.D425E

c.1275C>A

1 paper

NM_018937.5

p.D425E

c.1275C>G

1 paper

NM_018937.5

p.Q302L

c.905A>T