Varaico: Literature-Extracted Genetic Variants

PCDHB1

70 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 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 577–664UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 1

HGNC Alias Symbol

PCDH-BETA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013340.4

p.P221S

c.661C>T

Surrounding Variants

1 paper

NM_013340.4

p.V208I

c.622G>A

1 paper

NM_013340.4

p.D237N

c.709G>A

1 paper

NM_013340.4

p.S243S

c.729G>A

1 paper

NM_013340.4

p.N254D

c.760A>G

2 papers

NM_013340.4

p.T263M

c.788C>T

1 paper

NM_013340.4

p.N175S

c.524A>G

1 paper

NM_013340.4

p.A266A

c.798C>T

1 paper

NM_013340.4

p.S173I

c.518G>T

1 paper

NM_013340.4

p.T171fs

c.511_512fs

1 paper

NM_013340.4

p.Y170D

c.508T>G

1 paper

NM_013340.4

p.A276V

c.827C>T

1 paper

NM_013340.4

p.D159N

c.475G>A