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

2 papers

NM_001171.6

p.I1342T

c.4025T>C

Surrounding Variants

1 paper

NM_001171.6

p.I1344S

c.4031T>G

1 paper

NM_001171.6

p.I1345T

c.4034T>C

4 papers

NM_001171.6

p.R1339L

c.4016G>T

10 papers

NM_001171.6

p.R1339H

c.4016G>A

40 papers

NM_001171.6

p.R1339C

c.4015C>T

2 papers

NM_001171.6

p.R1339S

c.4015C>A

7 papers

NM_001171.6

p.P1346S

c.4036C>T

1 paper

NM_001171.6

p.P1346L

c.4037C>T

1 paper

NM_001171.6

p.T1337I

c.4010C>T

19 papers

NM_001171.6

p.Q1347H

c.4041G>T

19 papers

NM_001171.6

p.Q1347H

c.4041G>C

6 papers

NM_001171.6

p.Q1347Q

c.4041G>A