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.S498_W506del9

c.1492_1517del27

Surrounding Variants

1 paper

NM_001171.6

p.E507*

c.1519G>T

1 paper

NM_001171.6

p.W506*

c.1518G>A

1 paper

NM_001171.6

p.E507A

c.1520A>C

2 papers

NM_001171.6

p.W506L

c.1517G>T

1 paper

NM_001171.6

p.E507D

c.1521G>T

1 paper

NM_001171.6

p.E507D

c.1521G>C

3 papers

NM_001171.6

p.W506*

c.1517G>A

1 paper

NM_001171.6

p.G508E

c.1523G>A

1 paper

NM_001171.6

p.G505D

c.1514G>A

1 paper

NM_001171.6

p.A509S

c.1525G>T

5 papers

NM_001171.6

p.A509G

c.1526C>G

1 paper

NM_001171.6

p.F510I

c.1528T>A