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.A384T

c.1150G>A

Surrounding Variants

4 papers

NM_001171.6

p.S383L

c.1148C>T

3 papers

NM_001171.6

p.R382Q

c.1145G>A

4 papers

NM_001171.6

p.R382W

c.1144C>T

1 paper

NM_001171.6

p.L381F

c.1143G>C

1 paper

NM_001171.6

p.L381L

c.1143G>A

1 paper

NM_001171.6

p.T386I

c.1157C>T

6 papers

NM_001171.6

p.L381L

c.1141T>C

1 paper

NM_001171.6

p.G387V

c.1160G>T

2 papers

NM_001171.6

p.G387A

c.1160G>C

1 paper

NM_001171.6

p.M379I

c.1137G>T

1 paper

NM_001171.6

p.M379I

c.1137G>C

1 paper

NM_001171.6

p.M379I

c.1137G>A