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.C1059Y

c.3176G>A

Surrounding Variants

1 paper

NM_080284.3

p.S1055F

c.3164C>T

1 paper

NM_080284.3

p.L1052I

c.3154C>A

1 paper

NM_080284.3

p.L1074H

c.3221T>A

1 paper

NM_080284.3

p.I1090I

c.3270T>C

1 paper

NM_080284.3

p.Y1114C

c.3341A>G

1 paper

NM_080284.3

p.R1121C

c.3361C>T

1 paper

NM_080284.3

p.R1123insFs

c.3368_3369insA

1 paper

NM_080284.3

p.R1123fs

c.3367_3368fs

1 paper

NM_080284.3

p.Q993*

c.2977C>T

1 paper

NM_080284.3

p.T968I

c.2903C>T

1 paper

NM_080284.3

p.R961I

c.2882G>T

1 paper

NM_080284.3

p.D959N

c.2875G>A