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

27 papers

NM_001171.6

p.G1302R

c.3904G>A

Surrounding Variants

24 papers

NM_001171.6

p.G1302R

c.3904G>C

18 papers

NM_001171.6

p.T1301I

c.3902C>T

15 papers

NM_001171.6

p.A1303P

c.3907G>C

4 papers

NM_001171.6

p.A1303T

c.3907G>A

1 paper

NM_001171.6

p.G1304E

c.3911G>A

2 papers

NM_001171.6

p.G1299R

c.3895G>C

5 papers

NM_001171.6

p.G1299S

c.3895G>A

1 paper

NM_001171.6

p.G1304delFs

c.3912delC

16 papers

NM_001171.6

p.V1298F

c.3892G>T

3 papers

NM_001171.6

p.V1298I

c.3892G>A

1 paper

NM_001171.6

p.I1297N

c.3890T>A

5 papers

NM_001171.6

p.S1307P

c.3919T>C