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.A90D

c.269C>A

Surrounding Variants

1 paper

NM_001089.3

p.A89insFs

c.267dupT

6 papers

NM_001089.3

p.V93I

c.277G>A

2 papers

NM_001089.3

p.H86Y

c.256C>T

1 paper

NM_001089.3

p.S85_H86insFs

c.255_256insG

1 paper

NM_001089.3

p.V97insFs

c.289_290insA

42 papers

NM_001089.3

p.L101P

c.302T>C

1 paper

NM_001089.3

p.E79K

c.235G>A

1 paper

NM_001089.3

p.V102M

c.304G>A

1 paper

NM_001089.3

p.W78S

c.233G>C

1 paper

NM_001089.3

p.N104D

c.310A>G

1 paper

NM_001089.3

p.I103delFs

c.309delG

1 paper

NM_001089.3

p.G75R

c.223G>C