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.R428W

c.1282A>T

Surrounding Variants

1 paper

NM_018939.4

p.V421I

c.1261G>A

2 papers

NM_018939.4

p.T418I

c.1253C>T

1 paper

NM_018939.4

p.S440S

c.1320C>T

1 paper

NM_018939.4

p.A406V

c.1217C>T

1 paper

NM_018939.4

p.A406T

c.1216G>A

2 papers

NM_018939.4

p.T452I

c.1355C>T

1 paper

NM_018939.4

p.R459C

c.1375C>T

1 paper

NM_018939.4

p.H467D

c.1399C>G

1 paper

NM_018939.4

p.S470C

c.1408A>T

1 paper

NM_018939.4

p.S472insFs

c.1414_1415ins7

1 paper

NM_018939.4

p.A473T

c.1417G>A

1 paper

NM_018939.4

p.A473V

c.1418C>T