Varaico: Literature-Extracted Genetic Variants

PCDHB2

90 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 32–114UCSCCadherin-like

Cadherinaa 141–235UCSCCadherin domain

Cadherinaa 249–340UCSCCadherin domain

Cadherinaa 356–444UCSCCadherin domain

Cadherinaa 458–554UCSCCadherin domain

Cadherinaa 577–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 2

HGNC Alias Symbol

PCDH-BETA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018936.4

p.T41K

c.122C>A

Surrounding Variants

1 paper

NM_018936.4

p.R64fs

c.190_191fs

1 paper

NM_018936.4

p.A66P

c.196G>C

1 paper

NM_018936.4

p.P11L

c.32C>T

1 paper

NM_018936.4

p.M75delFs

c.223delA

1 paper

NM_018936.4

p.V10F

c.28G>T

1 paper

NM_018936.4

p.R9C

c.25C>T

1 paper

NM_018936.4

p.K74Q

c.220A>C

1 paper

NM_018936.4

p.K74R

c.221A>G

1 paper

NM_018936.4

p.M75fs

c.223_224fs

1 paper

NM_018936.4

p.R81delFs

c.242_243delGG

1 paper

NM_018936.4

p.G99S

c.295G>A

1 paper

NM_018936.4

p.L111I

c.331T>A