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

5 papers

NM_001171.6

p.R765W

c.2293C>T

Surrounding Variants

1 paper

NM_001171.6

p.R765G

c.2293C>G

2 papers

NM_001171.6

p.R765L

c.2294G>T

36 papers

NM_001171.6

p.R765Q

c.2294G>A

1 paper

NM_001171.6

p.A764V

c.2291C>T

1 paper

NM_001171.6

p.A764S

c.2290G>T

2 papers

NM_001171.6

p.A766V

c.2297C>T

9 papers

NM_001171.6

p.A766D

c.2297C>A

1 paper

NM_001171.6

p.V767I

c.2299G>A

1 paper

NM_001171.6

p.Y768H

c.2302T>C

1 paper

NM_001171.6

p.Y768N

c.2302T>A

10 papers

NM_001171.6

p.Y768*

c.2304C>G

12 papers

NM_001171.6

p.Y768*

c.2304C>A