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.T1262P

c.3784A>C

Surrounding Variants

1 paper

NM_080284.3

p.S1235F

c.3704C>T

1 paper

NM_080284.3

p.R1233Splc

c.3699-2A>G

1 paper

NM_080284.3

p.E1273_K1274Splc

c.3820-4C>T

1 paper

NM_080284.3

p.V1276I

c.3826G>A

1 paper

NM_080284.3

p.Y1286C

c.3857A>G

1 paper

NM_080284.3

p.A1303A

c.3909A>G

2 papers

NM_080284.3

p.C1216G

c.3646T>G

1 paper

NM_080284.3

p.Y1204*

c.3612C>G

1 paper

NM_080284.3

p.Y1204*

c.3612C>A

5 papers

NM_080284.3

p.N1322S

c.3965A>G

1 paper

NM_080284.3

p.A1188T

c.3562G>A

1 paper

NM_080284.3

p.R1183K

c.3548G>A