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.Q682R

c.2045A>G

Surrounding Variants

1 paper

NM_018937.5

p.A681A

c.2043C>A

2 papers

NM_018937.5

p.S704L

c.2111C>T

1 paper

NM_018937.5

p.H659H

c.1977T>C

1 paper

NM_018937.5

p.R652C

c.1954C>T

1 paper

NM_018937.5

p.S631C

c.1891A>T

1 paper

NM_018937.5

p.V739M

c.2215G>A

1 paper

NM_018937.5

p.Q750Q

c.2250G>A

1 paper

NM_018937.5

p.G613G

c.1839G>T

2 papers

NM_018937.5

p.P612L

c.1835C>T

1 paper

NM_018937.5

p.D595N

c.1783G>A

1 paper

NM_018937.5

p.R781K

c.2342G>A

1 paper

NM_018937.5

p.R781S

c.2343G>C