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.L493P

c.1478T>C

Surrounding Variants

5 papers

NM_018936.4

p.Q496Q

c.1488G>A

1 paper

NM_018936.4

p.A486T

c.1456G>A

1 paper

NM_018936.4

p.S482S

c.1446G>A

1 paper

NM_018936.4

p.F516L

c.1546T>C

1 paper

NM_018936.4

p.F516L

c.1548C>A

1 paper

NM_018936.4

p.F516L

c.1548C>G

1 paper

NM_018936.4

p.S520*

c.1559C>A

2 papers

NM_018936.4

p.R463R

c.1389C>G

2 papers

NM_018936.4

p.Y458C

c.1373A>G

1 paper

NM_018936.4

p.E530K

c.1588G>A

1 paper

NM_018936.4

p.G534S

c.1600G>A

2 papers

NM_018936.4

p.A536T

c.1606G>A