Varaico: Literature-Extracted Genetic Variants

ABCC6

800 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

TMD0_ABCaa 6–166UCSCABC transporter TMD0 domain

ABC_membraneaa 311–581UCSCABC transporter transmembrane region

ABC_tranaa 646–781UCSCABC transporter

ABC_membraneaa 947–1216UCSCABC transporter transmembrane region

ABC_tranaa 1282–1430UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 6

HGNC Previous Symbols

ARA; PXE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001171.6

p.Q477_E478Splc

c.1432-22C>A

Surrounding Variants

1 paper

NM_001171.6

p.Q477_E478Splc

c.1432-8G>A

2 papers

NM_001171.6

p.Q477_E478Splc

c.1432-41A>G

1 paper

NM_001171.6

p.Q477_E478Splc

c.1432-2A>G

1 paper

NM_001171.6

p.Q477_E478Splc

c.1432-45C>A

1 paper

NM_001171.6

p.E479K

c.1435G>A

1 paper

NM_001171.6

p.Q480E

c.1438C>G

2 papers

NM_001171.6

p.R482G

c.1444A>G

2 papers

NM_001171.6

p.R482T

c.1445G>C

1 paper

NM_001171.6

p.K484*

c.1450A>T

1 paper

NM_001171.6

p.S486A

c.1456T>G

3 papers

NM_001171.6

p.R487W

c.1459C>T

2 papers

NM_001171.6

p.R487G

c.1459C>G