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.G151V

c.452G>T

Surrounding Variants

1 paper

NM_018936.4

p.E146Q

c.436G>C

1 paper

NM_018936.4

p.I174M

c.522C>G

1 paper

NM_018936.4

p.V128I

c.382G>A

1 paper

NM_018936.4

p.D127D

c.381C>T

2 papers

NM_018936.4

p.R124Q

c.371G>A

1 paper

NM_018936.4

p.R124W

c.370C>T

1 paper

NM_018936.4

p.H179L

c.536A>T

1 paper

NM_018936.4

p.A121V

c.362C>T

1 paper

NM_018936.4

p.Q117R

c.350A>G

1 paper

NM_018936.4

p.P115A

c.343C>G

1 paper

NM_018936.4

p.L111I

c.331T>A

1 paper

NM_018936.4

p.G99S

c.295G>A