Varaico: Literature-Extracted Genetic Variants

PCDHB6

81 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 29–111UCSCCadherin-like

Cadherinaa 139–232UCSCCadherin domain

Cadherinaa 246–336UCSCCadherin domain

Cadherinaa 351–440UCSCCadherin domain

Cadherinaa 454–550UCSCCadherin domain

Cadherinaa 573–661UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 6

HGNC Alias Symbol

PCDH-BETA6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018939.4

p.V363E

c.1088T>A

Surrounding Variants

1 paper

NM_018939.4

p.P355L

c.1064C>T

1 paper

NM_018939.4

p.S348L

c.1043C>T

1 paper

NM_018939.4

p.S326S

c.978A>G

1 paper

NM_018939.4

p.A406T

c.1216G>A

1 paper

NM_018939.4

p.A406V

c.1217C>T

1 paper

NM_018939.4

p.V317G

c.950T>G

1 paper

NM_018939.4

p.V317F

c.949G>T

1 paper

NM_018939.4

p.E309*

c.925G>T

2 papers

NM_018939.4

p.T418I

c.1253C>T

1 paper

NM_018939.4

p.D306N

c.916G>A

1 paper

NM_018939.4

p.L305L

c.915G>A

1 paper

NM_018939.4

p.V421I

c.1261G>A