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

1–12 of 1874 variants

189 papers

NM_001171.6

p.R1141*

c.3421C>T

60 papers

NM_001171.6

p.R1268Q

c.3803G>A

55 papers

NM_001171.6

p.R1314W

c.3940C>T

53 papers

NM_001171.6

p.R391G

c.1171A>G

50 papers

NM_001171.6

p.R1164*

c.3490C>T

45 papers

NM_001171.6

p.R1138Q

c.3413G>A

43 papers

NM_001171.6

p.R518Q

c.1553G>A

41 papers

NM_001171.6

p.Q378*

c.1132C>T

40 papers

NM_001171.6

p.R518*

c.1552C>T

40 papers

NM_001171.6

p.R1339C

c.4015C>T

36 papers

NM_001171.6

p.R765Q

c.2294G>A

33 papers

NM_001171.6

p.R1138W

c.3412C>T