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

22 papers

NM_001171.6

p.R1114C

c.3340C>T

Surrounding Variants

24 papers

NM_001171.6

p.R1114P

c.3341G>C

21 papers

NM_001171.6

p.R1114H

c.3341G>A

1 paper

NM_001171.6

p.L1115del1

c.3343_3345delCAA

1 paper

NM_001171.6

p.Q1111H

c.3333G>T

1 paper

NM_001171.6

p.Q1111H

c.3333G>C

1 paper

NM_001171.6

p.S1109L

c.3326C>T

1 paper

NM_001171.6

p.Y1120F

c.3359A>T

1 paper

NM_001171.6

p.V1107A

c.3320T>C

3 papers

NM_001171.6

p.S1121L

c.3362C>T

14 papers

NM_001171.6

p.S1121W

c.3362C>G

3 papers

NM_001171.6

p.S1122fs

c.3364_3365fs

6 papers

NM_001171.6

p.S1122delFs

c.3364delA