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.D1326G

c.3977A>G

Surrounding Variants

1 paper

NM_001171.6

p.D1326Y

c.3976G>T

5 papers

NM_001171.6

p.D1326N

c.3976G>A

1 paper

NM_001171.6

p.D1326D

c.3978C>T

5 papers

NM_001171.6

p.G1327R

c.3979G>C

5 papers

NM_001171.6

p.G1327R

c.3979G>A

5 papers

NM_001171.6

p.G1327E

c.3980G>A

1 paper

NM_001171.6

p.W1324*

c.3972G>A

1 paper

NM_001171.6

p.W1324*

c.3971G>A

1 paper

NM_001171.6

p.I1330V

c.3988A>G

1 paper

NM_001171.6

p.I1330L

c.3988A>C

5 papers

NM_001171.6

p.I1330T

c.3989T>C

1 paper

NM_001171.6

p.A1331V

c.3992C>T