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

2 papers

NM_001171.6

p.G387A

c.1160G>C

Surrounding Variants

1 paper

NM_001171.6

p.G387V

c.1160G>T

1 paper

NM_001171.6

p.T386I

c.1157C>T

1 paper

NM_001171.6

p.T386_V389del4

c.1156_1166del12

1 paper

NM_001171.6

p.A384T

c.1150G>A

53 papers

NM_001171.6

p.R391G

c.1171A>G

4 papers

NM_001171.6

p.S383L

c.1148C>T

4 papers

NM_001171.6

p.K392E

c.1174A>G

3 papers

NM_001171.6

p.R382Q

c.1145G>A

4 papers

NM_001171.6

p.K392R

c.1175A>G

5 papers

NM_001171.6

p.K392N

c.1176G>T

5 papers

NM_001171.6

p.K392N

c.1176G>C

4 papers

NM_001171.6

p.R382W

c.1144C>T