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.R904H

c.2711G>A

Surrounding Variants

1 paper

NM_080284.3

p.S906G

c.2716A>G

1 paper

NM_080284.3

p.Q898E

c.2692C>G

1 paper

NM_080284.3

p.P896S

c.2686C>T

1 paper

NM_080284.3

p.S895F

c.2684C>T

1 paper

NM_080284.3

p.Y892C

c.2675A>G

1 paper

NM_080284.3

p.I883M

c.2649C>G

4 papers

NM_080284.3

p.M875I

c.2625G>T

4 papers

NM_080284.3

p.M875I

c.2625G>C

4 papers

NM_080284.3

p.M875I

c.2625G>A

1 paper

NM_080284.3

p.A865T

c.2593G>A

1 paper

NM_080284.3

p.G863A

c.2588G>C

1 paper

NM_080284.3

p.L858Splc

c.2574-1G>C