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.A989T

c.2965G>A

Surrounding Variants

1 paper

NM_001089.3

p.H985Q

c.2955T>G

1 paper

NM_001089.3

p.H985Q

c.2955T>A

20 papers

NM_001089.3

p.L982P

c.2945T>C

1 paper

NM_001089.3

p.R998fs

c.2992_2993fs

2 papers

NM_001089.3

p.R998delFs

c.2993delC

1 paper

NM_001089.3

p.L1001L

c.3003C>A

2 papers

NM_001089.3

p.G1002R

c.3004G>C

1 paper

NM_001089.3

p.G1002S

c.3004G>A

1 paper

NM_001089.3

p.G974Fs

c.2922delinsCGFs

1 paper

NM_001089.3

p.G974delins

c.2921_2922delinsAC

1 paper

NM_001089.3

p.G974E

c.2921G>A

1 paper

NM_001089.3

p.G1002Splc

c.3004+11T>C