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

1 paper

NM_001089.3

p.G1518fs

c.4552_4553fs

Surrounding Variants

1 paper

NM_001089.3

p.G1518V

c.4553G>T

1 paper

NM_001089.3

p.G1518D

c.4553G>A

1 paper

NM_001089.3

p.G1518fs

c.4552_4553fs

5 papers

NM_001089.3

p.G1518insFs

c.4552_4553insT

1 paper

NM_001089.3

p.S1516S

c.4548T>C

2 papers

NM_001089.3

p.S1516N

c.4547G>A

6 papers

NM_001089.3

p.R1521W

c.4561C>T

1 paper

NM_001089.3

p.S1524N

c.4571G>A

4 papers

NM_001089.3

p.A1528V

c.4583C>T

1 paper

NM_001089.3

p.P1533L

c.4598C>T

1 paper

NM_001089.3

p.I1536V

c.4606A>G

1 paper

NM_001089.3

p.D1539H

c.4615G>C