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.L513Q

c.1538T>A

Surrounding Variants

1 paper

NM_080284.3

p.G514C

c.1540G>T

1 paper

NM_080284.3

p.G514V

c.1541G>T

1 paper

NM_080284.3

p.A511V

c.1532C>T

1 paper

NM_080284.3

p.H515R

c.1544A>G

2 papers

NM_080284.3

p.S516R

c.1546A>C

1 paper

NM_080284.3

p.S516I

c.1547G>T

2 papers

NM_080284.3

p.T510M

c.1529C>T

2 papers

NM_080284.3

p.S516R

c.1548T>G

2 papers

NM_080284.3

p.S516R

c.1548T>A

1 paper

NM_080284.3

p.G507A

c.1520G>C

1 paper

NM_080284.3

p.N525I

c.1574A>T

1 paper

NM_080284.3

p.G536Splc

c.1606+2T>C