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.L674R

c.2021T>G

Surrounding Variants

1 paper

NM_018936.4

p.E677K

c.2029G>A

1 paper

NM_018936.4

p.A679A

c.2037A>C

1 paper

NM_018936.4

p.V690I

c.2068G>A

1 paper

NM_018936.4

p.S655L

c.1964C>T

1 paper

NM_018936.4

p.R635R

c.1905C>T

1 paper

NM_018936.4

p.A629A

c.1887C>A

1 paper

NM_018936.4

p.S719S

c.2157C>T

1 paper

NM_018936.4

p.G743G

c.2229C>T

1 paper

NM_018936.4

p.S598L

c.1793C>T

2 papers

NM_018936.4

p.G760D

c.2279G>A

3 papers

NM_018936.4

p.G760delins

c.2279_2280delinsAA

1 paper

NM_018936.4

p.N569N

c.1707C>T