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.R373S

c.1119G>C

Surrounding Variants

1 paper

NM_001171.6

p.R373S

c.1119G>T

1 paper

NM_001171.6

p.L374F

c.1120C>T

1 paper

NM_001171.6

p.L374V

c.1120C>G

2 papers

NM_001171.6

p.Q363_L374del0

c.1088_1120del33

1 paper

NM_001171.6

p.R373G

c.1117A>G

1 paper

NM_001171.6

p.M371T

c.1112T>C

1 paper

NM_001171.6

p.V376M

c.1126G>A

2 papers

NM_001171.6

p.M371V

c.1111A>G

1 paper

NM_001171.6

p.L377V

c.1129C>G

1 paper

NM_001171.6

p.N370S

c.1109A>G

9 papers

NM_001171.6

p.N370D

c.1108A>G

1 paper

NM_001171.6

p.Q369H

c.1107G>T