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

Selected Variant

1 paper

NM_080284.3

p.L306fs

c.916_917fs

Surrounding Variants

1 paper

NM_080284.3

p.L306delFs

c.917delA

1 paper

NM_080284.3

p.Y307C

c.920A>G

3 papers

NM_080284.3

p.L306fs

c.916_917fs

1 paper

NM_080284.3

p.G296V

c.887G>T

1 paper

NM_080284.3

p.G296C

c.886G>T

1 paper

NM_080284.3

p.T283I

c.848C>T

3 papers

NM_080284.3

p.V282I

c.844G>A

1 paper

NM_080284.3

p.F274C

c.821T>G

1 paper

NM_080284.3

p.Y271S

c.812A>C

1 paper

NM_080284.3

p.S266P

c.796T>C

1 paper

NM_080284.3

p.L314V

c.940T>G

1 paper

NM_080284.3

p.G343V

c.1028G>T