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

27 papers

NM_001089.3

p.R280C

c.838C>T

Surrounding Variants

8 papers

NM_001089.3

p.R280H

c.839G>A

2 papers

NM_001089.3

p.A275V

c.824C>T

2 papers

NM_001089.3

p.Y273_T274delFs

c.817_821del5

1 paper

NM_001089.3

p.Y273fs

c.817_818fs

37 papers

NM_001089.3

p.R288K

c.863G>A

2 papers

NM_001089.3

p.L290M

c.868C>A

1 paper

NM_001089.3

p.L290Q

c.869T>A

1 paper

NM_001089.3

p.L269ins1

c.806_807insGCT

2 papers

NM_001089.3

p.K291K

c.873G>A

1 paper

NM_001089.3

p.K291_E292Splc

c.873+10C>T

2 papers

NM_001089.3

p.P264R

c.791C>G

1 paper

NM_001089.3

p.F255L

c.765C>G