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.M356I

c.1068G>T

Surrounding Variants

1 paper

NM_001171.6

p.M356I

c.1068G>C

2 papers

NM_001171.6

p.M356I

c.1068G>A

1 paper

NM_001171.6

p.M356T

c.1067T>C

7 papers

NM_001171.6

p.L355R

c.1064T>G

1 paper

NM_001171.6

p.L355V

c.1063C>G

1 paper

NM_001171.6

p.V354L

c.1060G>C

1 paper

NM_001171.6

p.V354M

c.1060G>A

6 papers

NM_001171.6

p.S359S

c.1077A>G

1 paper

NM_001171.6

p.S359S

c.1077A>C

7 papers

NM_001171.6

p.A353T

c.1057G>A

1 paper

NM_001171.6

p.L351R

c.1052T>G

1 paper

NM_001171.6

p.L351P

c.1052T>C