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.Y1274insFs

c.3820_3821insT

Surrounding Variants

1 paper

NM_001171.6

p.Y1274H

c.3820T>C

1 paper

NM_001171.6

p.Y1274fs

c.3820_3821fs

10 papers

NM_001171.6

p.R1275*

c.3823C>T

1 paper

NM_001171.6

p.R1275P

c.3824G>C

3 papers

NM_001171.6

p.R1273K

c.3818G>A

1 paper

NM_001171.6

p.R1275Q

c.3824G>A

1 paper

NM_001171.6

p.P1276S

c.3826C>T

1 paper

NM_001171.6

p.E1277*

c.3829G>T

1 paper

NM_001171.6

p.L1272_P1276insFs

c.3816_3828dup13

1 paper

NM_001171.6

p.E1277fs

c.3829_3830fs

1 paper

NM_001171.6

p.F1270S

c.3809T>C

4 papers

NM_001171.6

p.P1279L

c.3836C>T