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.V1285L

c.3853G>T

Surrounding Variants

1 paper

NM_001171.6

p.V1285L

c.3853G>C

3 papers

NM_001171.6

p.V1285M

c.3853G>A

1 paper

NM_001171.6

p.A1281T

c.3841G>A

1 paper

NM_001171.6

p.H1290L

c.3869A>T

4 papers

NM_001171.6

p.P1279L

c.3836C>T

5 papers

NM_001171.6

p.A1291T

c.3871G>A

1 paper

NM_001171.6

p.R1275_H1290del0

c.3823_3870del48

2 papers

NM_001171.6

p.A1291fs

c.3871_3872fs

2 papers

NM_001171.6

p.A1291delFs

c.3871delC

1 paper

NM_001171.6

p.R1275_A1291delFs

c.3823_3871del49

1 paper

NM_001171.6

p.E1277*

c.3829G>T

1 paper

NM_001171.6

p.L1272_P1276insFs

c.3816_3828dup13