Varaico: Literature-Extracted Genetic Variants

PCDHB12

97 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 30–112UCSCCadherin-like

Cadherinaa 139–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 576–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 12

HGNC Alias Symbol

PCDH-BETA12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018932.4

p.Q680H

c.2040G>T

Surrounding Variants

1 paper

NM_018932.4

p.Q680H

c.2040G>C

1 paper

NM_018932.4

p.A679T

c.2035G>A

1 paper

NM_018932.4

p.A677S

c.2029G>T

1 paper

NM_018932.4

p.L671L

c.2013G>A

1 paper

NM_018932.4

p.A693A

c.2079G>C

1 paper

NM_018932.4

p.S698S

c.2094G>A

1 paper

NM_018932.4

p.L661P

c.1982T>C

1 paper

NM_018932.4

p.S704L

c.2111C>T

1 paper

NM_018932.4

p.T655T

c.1965C>G

1 paper

NM_018932.4

p.L707Q

c.2120T>A

1 paper

NM_018932.4

p.A710A

c.2130G>A

1 paper

NM_018932.4

p.P721R

c.2162C>G