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.L433L

c.1299G>A

Surrounding Variants

1 paper

NM_018936.4

p.P431T

c.1291C>A

5 papers

NM_018936.4

p.F428L

c.1284C>A

5 papers

NM_018936.4

p.F428L

c.1284C>G

5 papers

NM_018936.4

p.F428L

c.1282T>C

1 paper

NM_018936.4

p.S444S

c.1332C>T

1 paper

NM_018936.4

p.I423_T424ins0

c.1267_1272dup6

1 paper

NM_018936.4

p.Y419N

c.1255T>A

1 paper

NM_018936.4

p.A450T

c.1348G>A

1 paper

NM_018936.4

p.R413W

c.1237C>T

2 papers

NM_018936.4

p.Y458C

c.1373A>G

2 papers

NM_018936.4

p.R463R

c.1389C>G

1 paper

NM_018936.4

p.P392H

c.1175C>A