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

2 papers

NM_080284.3

p.H1403Q

c.4209T>A

Surrounding Variants

2 papers

NM_080284.3

p.H1403Q

c.4209T>G

1 paper

NM_080284.3

p.H1403Y

c.4207C>T

1 paper

NM_080284.3

p.L1428L

c.4282C>T

1 paper

NM_080284.3

p.T1441M

c.4322C>T

1 paper

NM_080284.3

p.T1441R

c.4322C>G

1 paper

NM_080284.3

p.M1451I

c.4353G>T

1 paper

NM_080284.3

p.M1451I

c.4353G>C

1 paper

NM_080284.3

p.M1451I

c.4353G>A

1 paper

NM_080284.3

p.A1387V

c.4160C>T

1 paper

NM_080284.3

p.T1370T

c.4110G>A

1 paper

NM_080284.3

p.P1367P

c.4101C>T

19 papers

NM_080284.3

p.C1359R

c.4075T>C