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.G739A

c.2216G>C

Surrounding Variants

1 paper

NM_001089.3

p.L741L

c.2221C>T

3 papers

NM_001089.3

p.G745R

c.2233G>C

3 papers

NM_001089.3

p.G745R

c.2233G>A

1 paper

NM_001089.3

p.I733I

c.2199C>T

1 paper

NM_001089.3

p.R732C

c.2194C>T

1 paper

NM_001089.3

p.S747L

c.2240C>T

1 paper

NM_001089.3

p.L729fs

c.2185_2186fs

1 paper

NM_001089.3

p.E725K

c.2173G>A

3 papers

NM_001089.3

p.D724E

c.2172C>G

3 papers

NM_001089.3

p.D724E

c.2172C>A

1 paper

NM_001089.3

p.Y754F

c.2261A>T

3 papers

NM_001089.3

p.M723I

c.2169G>T