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

40 papers

NM_001171.6

p.R518*

c.1552C>T

Surrounding Variants

1 paper

NM_001171.6

p.R518P

c.1553G>C

43 papers

NM_001171.6

p.R518Q

c.1553G>A

1 paper

NM_001171.6

p.G519S

c.1555G>A

1 paper

NM_001171.6

p.Q520K

c.1558C>A

1 paper

NM_001171.6

p.L515L

c.1543C>T

1 paper

NM_001171.6

p.L515V

c.1543C>G

1 paper

NM_001171.6

p.L515M

c.1543C>A

1 paper

NM_001171.6

p.E521A

c.1562A>C

5 papers

NM_001171.6

p.E521D

c.1563G>T

5 papers

NM_001171.6

p.E521D

c.1563G>C

13 papers

NM_001171.6

p.V514I

c.1540G>A

2 papers

NM_001171.6

p.L522P

c.1565T>C