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.K679R

c.2036A>G

Surrounding Variants

1 paper

NM_013340.4

p.Y671C

c.2012A>G

1 paper

NM_013340.4

p.K689T

c.2066A>C

1 paper

NM_013340.4

p.F700L

c.2098T>C

1 paper

NM_013340.4

p.F700L

c.2100T>A

1 paper

NM_013340.4

p.F700L

c.2100T>G

1 paper

NM_013340.4

p.A652S

c.1954G>T

1 paper

NM_013340.4

p.L641*

c.1922T>A

1 paper

NM_013340.4

p.K719I

c.2156A>T

1 paper

NM_013340.4

p.K723N

c.2169G>C

1 paper

NM_013340.4

p.K723N

c.2169G>T

1 paper

NM_013340.4

p.R634T

c.1901G>C

1 paper

NM_013340.4

p.S748S

c.2244C>A