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

3 papers

NM_001171.6

p.A1139T

c.3415G>A

Surrounding Variants

1 paper

NM_001171.6

p.A1139V

c.3416C>T

6 papers

NM_001171.6

p.R1138P

c.3413G>C

47 papers

NM_001171.6

p.R1138Q

c.3413G>A

NM_001351800.1

p.R1024Q

c.3071G>A

1 paper

NM_001171.6

p.F1140L

c.3418T>C

33 papers

NM_001171.6

p.R1138W

c.3412C>T

1 paper

NM_001171.6

p.F1140L

c.3420C>G

1 paper

NM_001171.6

p.F1140L

c.3420C>A

189 papers

NM_001171.6

p.R1141*

c.3421C>T

3 papers

NM_001171.6

p.R1141Q

c.3422G>A

1 paper

NM_001171.6

p.T1135I

c.3404C>T

1 paper

NM_001171.6

p.T1135R

c.3404C>G

5 papers

NM_001171.6

p.Q1143*

c.3427C>T