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

1 paper

NM_018936.4

p.G327R

c.979G>A

Surrounding Variants

1 paper

NM_018936.4

p.G327R

c.979G>C

1 paper

NM_018936.4

p.G326S

c.976G>A

1 paper

NM_018936.4

p.G326C

c.976G>T

1 paper

NM_018936.4

p.A323fs

c.967_968fs

1 paper

NM_018936.4

p.A323delFs

c.968delC

1 paper

NM_018936.4

p.D341V

c.1022A>T

1 paper

NM_018936.4

p.D344G

c.1031A>G

1 paper

NM_018936.4

p.P346S

c.1036C>T

1 paper

NM_018936.4

p.R306*

c.916A>T

1 paper

NM_018936.4

p.T350_M351delFs

c.1048_1051del4

1 paper

NM_018936.4

p.T350fs

c.1048_1049fs

1 paper

NM_018936.4

p.G301R

c.901G>A