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.Y379*

c.1137T>A

Surrounding Variants

1 paper

NM_080284.3

p.Y379*

c.1137T>G

1 paper

NM_080284.3

p.P389P

c.1167T>C

4 papers

NM_080284.3

p.M396T

c.1187T>C

1 paper

NM_080284.3

p.L405F

c.1215G>T

1 paper

NM_080284.3

p.L405F

c.1215G>C

1 paper

NM_080284.3

p.L412L

c.1236A>G

1 paper

NM_080284.3

p.L415I

c.1243T>A

1 paper

NM_080284.3

p.K419E

c.1255A>G

1 paper

NM_080284.3

p.Y423Splc

c.1268-1G>T

1 paper

NM_080284.3

p.G424R

c.1270G>A

1 paper

NM_080284.3

p.S437S

c.1311A>C

1 paper

NM_080284.3

p.E452K

c.1354G>A