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

6 papers

NM_001171.6

p.G1263R

c.3787G>A

Surrounding Variants

6 papers

NM_001171.6

p.G1263R

c.3787G>C

1 paper

NM_001171.6

p.Q1264*

c.3790C>T

1 paper

NM_001171.6

p.Q1261H

c.3783G>T

1 paper

NM_001171.6

p.Q1261H

c.3783G>C

1 paper

NM_001171.6

p.P1260P

c.3780T>C

2 papers

NM_001171.6

p.P1260H

c.3779C>A

1 paper

NM_001171.6

p.I1265I

c.3795C>A

1 paper

NM_001171.6

p.E1266K

c.3796G>A

1 paper

NM_001171.6

p.P1260A

c.3778C>G

2 papers

NM_001171.6

p.W1259fs

c.3775_3776fs

1 paper

NM_001171.6

p.E1266G

c.3797A>G

25 papers

NM_001171.6

p.W1259delFs

c.3775delA