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.A213V

c.638C>T

Surrounding Variants

1 paper

NM_018939.4

p.G216G

c.648C>G

1 paper

NM_018939.4

p.Q204K

c.610C>A

1 paper

NM_018939.4

p.S225F

c.674C>T

3 papers

NM_018939.4

p.V231I

c.691G>A

1 paper

NM_018939.4

p.R184C

c.550C>T

1 paper

NM_018939.4

p.S264*

c.791C>A

1 paper

NM_018939.4

p.S264*

c.791C>G

1 paper

NM_018939.4

p.D158E

c.474T>A

1 paper

NM_018939.4

p.D158V

c.473A>T

1 paper

NM_018939.4

p.D269A

c.806A>C

1 paper

NM_018939.4

p.A270V

c.809C>T

1 paper

NM_018939.4

p.S272L

c.815C>T