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.I213T

c.638T>C

Surrounding Variants

1 paper

NM_080284.3

p.N216I

c.647A>T

2 papers

NM_080284.3

p.N216T

c.647A>C

1 paper

NM_080284.3

p.L210I

c.628T>A

1 paper

NM_080284.3

p.L218F

c.652C>T

1 paper

NM_080284.3

p.E221Q

c.661G>C

1 paper

NM_080284.3

p.I205V

c.613A>G

1 paper

NM_080284.3

p.E198Q

c.592G>C

1 paper

NM_080284.3

p.E188_I189Splc

c.565-1G>A

1 paper

NM_080284.3

p.S249fs

c.745_746fs

1 paper

NM_080284.3

p.M255I

c.765G>T

1 paper

NM_080284.3

p.M255I

c.765G>C

1 paper

NM_080284.3

p.M255I

c.765G>A