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.G1205E

c.3614G>A

Surrounding Variants

2 papers

NM_001089.3

p.G1205R

c.3613G>C

2 papers

NM_001089.3

p.G1205R

c.3613G>A

4 papers

NM_001089.3

p.F1203_L1204del2

c.3607_3611del6

8 papers

NM_001089.3

p.F1203del1

c.3607_3608delGAA

2 papers

NM_001089.3

p.F1201Y

c.3602T>A

2 papers

NM_001089.3

p.F1201I

c.3601T>A

1 paper

NM_001089.3

p.N1200K

c.3600C>G

1 paper

NM_001089.3

p.N1200K

c.3600C>A

1 paper

NM_001089.3

p.T1211M

c.3632C>T

5 papers

NM_001089.3

p.I1193M

c.3579C>G

19 papers

NM_001089.3

p.G1221S

c.3661G>A

1 paper

NM_001089.3

p.G1221V

c.3662G>T