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.P1247L

c.3740C>T

Surrounding Variants

1 paper

NM_001171.6

p.P1247R

c.3740C>G

1 paper

NM_001171.6

p.P1247S

c.3739C>T

4 papers

NM_001171.6

p.P1247T

c.3739C>A

2 papers

NM_001171.6

p.A1246fs

c.3736_3737fs

1 paper

NM_001171.6

p.A1246T

c.3736G>A

22 papers

NM_001171.6

p.E1245_A1246Splc

c.3736-1G>A

1 paper

NM_001171.6

p.R1249K

c.3746G>A

1 paper

NM_001171.6

p.L1250L

c.3750G>A

1 paper

NM_001171.6

p.T1252A

c.3754A>G

1 paper

NM_001171.6

p.T1252P

c.3754A>C

1 paper

NM_001171.6

p.T1252I

c.3755C>T

1 paper

NM_001171.6

p.T1252R

c.3755C>G