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

55 papers

NM_001171.6

p.R1314W

c.3940C>T

Surrounding Variants

3 papers

NM_001171.6

p.R1314L

c.3941G>T

2 papers

NM_001171.6

p.L1313fs

c.3937_3938fs

17 papers

NM_001171.6

p.R1314Q

c.3941G>A

2 papers

NM_001171.6

p.L1312_L1313insFs

c.3936_3937insG

6 papers

NM_001171.6

p.G1311E

c.3932G>A

1 paper

NM_001171.6

p.S1310I

c.3929G>T

1 paper

NM_001171.6

p.S1310T

c.3929G>C

1 paper

NM_001171.6

p.A1318T

c.3952G>A

1 paper

NM_001171.6

p.A1318G

c.3953C>G

1 paper

NM_001171.6

p.A1319S

c.3955G>T

1 paper

NM_001171.6

p.A1309T

c.3925G>A

1 paper

NM_001171.6

p.A1319G

c.3956C>G