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.Q363P

c.1088A>C

Surrounding Variants

3 papers

NM_001171.6

p.Q363*

c.1087C>T

5 papers

NM_001171.6

p.T364M

c.1091C>T

14 papers

NM_001171.6

p.T364R

c.1091C>G

1 paper

NM_001171.6

p.L358_C361delFs

c.1072_1082del11

2 papers

NM_001171.6

p.L365P

c.1094T>C

1 paper

NM_001171.6

p.L365Q

c.1094T>A

6 papers

NM_001171.6

p.S359S

c.1077A>G

1 paper

NM_001171.6

p.S359S

c.1077A>C

1 paper

NM_001171.6

p.E367E

c.1101G>A

1 paper

NM_001171.6

p.Q369R

c.1106A>G

1 paper

NM_001171.6

p.Q369H

c.1107G>T

1 paper

NM_001171.6

p.Q369H

c.1107G>C