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

18 papers

NM_001171.6

p.R760W

c.2278C>T

Surrounding Variants

5 papers

NM_001171.6

p.R760Q

c.2279G>A

1 paper

NM_001171.6

p.G756V

c.2267G>T

1 paper

NM_001171.6

p.A764S

c.2290G>T

4 papers

NM_001171.6

p.G756S

c.2266G>A

2 papers

NM_001171.6

p.L753_G755del3

c.2257_2264del9

1 paper

NM_001171.6

p.A764V

c.2291C>T

2 papers

NM_001171.6

p.G755E

c.2264G>A

17 papers

NM_001171.6

p.G755R

c.2263G>C

17 papers

NM_001171.6

p.G755R

c.2263G>A

5 papers

NM_001171.6

p.R765W

c.2293C>T

1 paper

NM_001171.6

p.R765G

c.2293C>G

2 papers

NM_001171.6

p.R765L

c.2294G>T