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.G529D

c.1586G>A

Surrounding Variants

1 paper

NM_001171.6

p.G529R

c.1585G>C

2 papers

NM_001171.6

p.G529S

c.1585G>A

1 paper

NM_001171.6

p.L530F

c.1588C>T

2 papers

NM_001171.6

p.L530P

c.1589T>C

1 paper

NM_001171.6

p.S528F

c.1583C>T

1 paper

NM_001171.6

p.T527A

c.1579A>G

1 paper

NM_001171.6

p.F532S

c.1595T>C

1 paper

NM_001171.6

p.R526Q

c.1577G>A

1 paper

NM_001171.6

p.R526W

c.1576C>T

1 paper

NM_001171.6

p.R526G

c.1576C>G

1 paper

NM_001171.6

p.S533T

c.1597T>A

1 paper

NM_001171.6

p.S533fs

c.1597_1598fs