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.Q1143*

c.3427C>T

Surrounding Variants

2 papers

NM_001171.6

p.A1144V

c.3431C>T

3 papers

NM_001171.6

p.R1141Q

c.3422G>A

189 papers

NM_001171.6

p.R1141*

c.3421C>T

1 paper

NM_001171.6

p.F1140L

c.3420C>G

1 paper

NM_001171.6

p.F1140L

c.3420C>A

3 papers

NM_001171.6

p.P1145P

c.3435C>T

1 paper

NM_001171.6

p.A1144insFs

c.3432dupC

1 paper

NM_001171.6

p.F1140L

c.3418T>C

1 paper

NM_001171.6

p.F1146S

c.3437T>C

1 paper

NM_001171.6

p.A1139V

c.3416C>T

3 papers

NM_001171.6

p.A1139T

c.3415G>A

1 paper

NM_001171.6

p.F1146delFs

c.3437delA