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

24 papers

NM_001089.3

p.Q215K

c.643C>A

Surrounding Variants

8 papers

NM_001089.3

p.L212M

c.634C>A

1 paper

NM_001089.3

p.D219G

c.656A>G

6 papers

NM_001089.3

p.G210V

c.629G>T

1 paper

NM_001089.3

p.D219E

c.657C>G

1 paper

NM_001089.3

p.D219E

c.657C>A

1 paper

NM_001089.3

p.V214_D219delFs

c.640_656del17

3 papers

NM_001089.3

p.G210C

c.628G>T

2 papers

NM_001089.3

p.G210S

c.628G>A

1 paper

NM_001089.3

p.R220W

c.658C>T

1 paper

NM_001089.3

p.R220Q

c.659G>A

17 papers

NM_001089.3

p.R208W

c.622C>T

1 paper

NM_001089.3

p.I207M

c.621C>G