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.V787D

c.2360T>A

Surrounding Variants

1 paper

NM_001171.6

p.V787F

c.2359G>T

16 papers

NM_001351800.1

p.V673I

c.2017G>A

NM_001171.6

p.V787I

c.2359G>A

1 paper

NM_001171.6

p.H790Y

c.2368C>T

1 paper

NM_001171.6

p.V791I

c.2371G>A

1 paper

NM_001171.6

p.L783P

c.2348T>C

8 papers

NM_001171.6

p.A781V

c.2342C>T

1 paper

NM_001171.6

p.N793S

c.2378A>G

3 papers

NM_001171.6

p.N793K

c.2379C>G

2 papers

NM_001171.6

p.N793K

c.2379C>A

1 paper

NM_001171.6

p.L780fs

c.2338_2339fs

1 paper

NM_001171.6

p.L780delFs

c.2338delG

1 paper

NM_001171.6

p.L780fs

c.2338_2339fs