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.Y963*

c.2889C>G

Surrounding Variants

1 paper

NM_001089.3

p.Y963*

c.2889C>A

16 papers

NM_001089.3

p.G964S

c.2890G>A

5 papers

NM_001089.3

p.Y963C

c.2888A>G

16 papers

NM_001089.3

p.G964D

c.2891G>A

3 papers

NM_001089.3

p.G961G

c.2883C>T

8 papers

NM_001089.3

p.L960F

c.2880G>T

8 papers

NM_001089.3

p.L960F

c.2880G>C

5 papers

NM_001089.3

p.L960S

c.2879T>C

2 papers

NM_001089.3

p.V968M

c.2902G>A

5 papers

NM_001089.3

p.P969S

c.2905C>T

8 papers

NM_001089.3

p.D953H

c.2857G>C

3 papers

NM_001089.3

p.D953N

c.2857G>A