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.G1619G

c.4857G>A

Surrounding Variants

1 paper

NM_001089.3

p.G1619R

c.4855G>C

1 paper

NM_001089.3

p.G1619R

c.4855G>A

1 paper

NM_001089.3

p.V1615fs

c.4843_4844fs

2 papers

NM_001089.3

p.V1615G

c.4844T>G

1 paper

NM_001089.3

p.E1625*

c.4873G>T

1 paper

NM_001089.3

p.E1626fs

c.4876_4877fs

1 paper

NM_001089.3

p.E1626V

c.4877A>T

1 paper

NM_001089.3

p.F1627L

c.4879T>C

1 paper

NM_001089.3

p.E1626delFs

c.4877_4878delCT

11 papers

NM_001089.3

p.R1612P

c.4835G>C

1 paper

NM_001089.3

p.F1627L

c.4881C>G

1 paper

NM_001089.3

p.F1627L

c.4881C>A