Varaico: Literature-Extracted Genetic Variants

ABCA3

484 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 intracellula...

Pfam Domains

ABC2_membrane_3aa 213–469UCSCABC-2 family transporter protein

ABC_tranaa 549–693UCSCABC transporter

ACT_13aa 758–832UCSCACT-like domain

ABC2_membrane_3aa 923–1324UCSCABC-2 family transporter protein

ABC_tranaa 1399–1543UCSCABC transporter

R1_ABCA1aa 1606–1682UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 3

HGNC Previous Symbol

ABC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

30 papers

NM_001089.3

p.N568D

c.1702A>G

Surrounding Variants

4 papers

NM_001089.3

p.G571R

c.1711G>C

4 papers

NM_001089.3

p.G571R

c.1711G>A

1 paper

NM_001089.3

p.V563I

c.1687G>A

2 papers

NM_001089.3

p.T574I

c.1721C>T

1 paper

NM_001089.3

p.I561F

c.1681A>T

3 papers

NM_001089.3

p.G559R

c.1675G>C

3 papers

NM_001089.3

p.G559R

c.1675G>A

1 paper

NM_001089.3

p.S577fs

c.1729_1730fs

5 papers

NM_001089.3

p.S577delFs

c.1729_1730delGA

1 paper

NM_001089.3

p.E558K

c.1672G>A

1 paper

NM_001089.3

p.Y557H

c.1669T>C

7 papers

NM_001089.3

p.L579P

c.1736T>C