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.C1124R

c.3370T>C

Surrounding Variants

1 paper

NM_001171.6

p.V1123L

c.3367G>C

2 papers

NM_001171.6

p.S1122fs

c.3364_3365fs

1 paper

NM_001171.6

p.S1125F

c.3374C>T

6 papers

NM_001171.6

p.S1122delFs

c.3364delA

3 papers

NM_001171.6

p.S1122fs

c.3364_3365fs

1 paper

NM_001171.6

p.H1126P

c.3377A>C

3 papers

NM_001171.6

p.S1121L

c.3362C>T

14 papers

NM_001171.6

p.S1121W

c.3362C>G

4 papers

NM_001171.6

p.M1127T

c.3380T>C

1 paper

NM_001171.6

p.M1127I

c.3381G>T

2 papers

NM_001171.6

p.M1127I

c.3381G>C

1 paper

NM_001171.6

p.M1127I

c.3381G>A