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

2 papers

NM_013340.4

p.V474F

c.1420G>T

Surrounding Variants

1 paper

NM_013340.4

p.I471S

c.1412T>G

1 paper

NM_013340.4

p.R462G

c.1384C>G

1 paper

NM_013340.4

p.R462*

c.1384C>T

1 paper

NM_013340.4

p.P494fs

c.1480_1481fs

1 paper

NM_013340.4

p.P494delFs

c.1482delA

1 paper

NM_013340.4

p.P449L

c.1346C>T

1 paper

NM_013340.4

p.D444N

c.1330G>A

1 paper

NM_013340.4

p.E439K

c.1315G>A

1 paper

NM_013340.4

p.L514I

c.1540C>A

1 paper

NM_013340.4

p.A516V

c.1547C>T

1 paper

NM_013340.4

p.A524V

c.1571C>T

1 paper

NM_013340.4

p.V531L

c.1591G>C