Varaico: Literature-Extracted Genetic Variants

ABCA6

163 papers

RefSeq Summary

The membrane-associated 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 intracellular...

Pfam Domains

ABC2_membrane_3aa 28–416UCSCABC-2 family transporter protein

ABC_tranaa 497–643UCSCABC transporter

ACT_13aa 708–781UCSCACT-like domain

ABC2_membrane_3aa 852–1176UCSCABC-2 family transporter protein

ABC_tranaa 1303–1441UCSCABC transporter

R1_ABCA1aa 1505–1579UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 6

HGNC Alias Symbol

EST155051

Papers

RefSeq ID

Protein change

DNA change

1–12 of 209 variants

19 papers

NM_080284.3

p.C1359R

c.4075T>C

5 papers

NM_080284.3

p.N1322S

c.3965A>G

4 papers

NM_080284.3

p.M396T

c.1187T>C

4 papers

NM_080284.3

p.M875I

c.2625G>T

4 papers

NM_080284.3

p.M875I

c.2625G>C

4 papers

NM_080284.3

p.M875I

c.2625G>A

3 papers

NM_080284.3

p.V282I

c.844G>A

3 papers

NM_080284.3

p.L306fs

c.916_917fs

3 papers

NM_080284.3

p.R939I

c.2816G>T

2 papers

NM_080284.3

p.N216T

c.647A>C

2 papers

NM_080284.3

p.Y487C

c.1460A>G

2 papers

NM_080284.3

p.T510M

c.1529C>T