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

2 papers

NM_001089.3

p.A548delFs

c.1644delG

Surrounding Variants

1 paper

NM_001089.3

p.V549I

c.1645G>A

1 paper

NM_001089.3

p.A548G

c.1643C>G

1 paper

NM_001089.3

p.R550I

c.1649G>T

1 paper

NM_001089.3

p.R546insFs

c.1636_1637insAC

1 paper

NM_001089.3

p.R546G

c.1636A>G

1 paper

NM_001089.3

p.G542*

c.1624G>T

1 paper

NM_001089.3

p.Y557H

c.1669T>C

1 paper

NM_001089.3

p.E558K

c.1672G>A

3 papers

NM_001089.3

p.G559R

c.1675G>C

3 papers

NM_001089.3

p.G559R

c.1675G>A

1 paper

NM_001089.3

p.K537_V538Splc

c.1612-2A>G

1 paper

NM_001089.3

p.K537_V538Splc

c.1612-3C>G