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

1–12 of 95 variants

5 papers

NM_018936.4

p.F428L

c.1282T>C

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.Q496Q

c.1488G>A

3 papers

NM_018936.4

p.G760delins

c.2279_2280delinsAA

2 papers

NM_018936.4

p.T41K

c.122C>A

2 papers

NM_018936.4

p.R124Q

c.371G>A

2 papers

NM_018936.4

p.Y458C

c.1373A>G

2 papers

NM_018936.4

p.R463R

c.1389C>G

2 papers

NM_018936.4

p.A536T

c.1606G>A

2 papers

NM_018936.4

p.A542A

c.1626G>T

2 papers

NM_018936.4

p.G760D

c.2279G>A