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

1 paper

NM_001171.6

p.R1153C

c.3457C>T

Surrounding Variants

1 paper

NM_001171.6

p.R1153H

c.3458G>A

1 paper

NM_001171.6

p.A1152V

c.3455C>T

2 papers

NM_001171.6

p.V1154I

c.3460G>A

1 paper

NM_001171.6

p.V1154A

c.3461T>C

1 paper

NM_001171.6

p.D1155Y

c.3463G>T

1 paper

NM_001171.6

p.Q1158R

c.3473A>G

1 paper

NM_001171.6

p.F1146delFs

c.3437delA

1 paper

NM_001171.6

p.R1159G

c.3475A>G

1 paper

NM_001171.6

p.F1146S

c.3437T>C

1 paper

NM_001171.6

p.A1144insFs

c.3432dupC

2 papers

NM_001171.6

p.I1160V

c.3478A>G

3 papers

NM_001171.6

p.P1145P

c.3435C>T