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

1–12 of 866 variants

128 papers

NM_001089.3

p.E292V

c.875A>T

42 papers

NM_001089.3

p.L101P

c.302T>C

37 papers

NM_001089.3

p.R288K

c.863G>A

30 papers

NM_001089.3

p.N568D

c.1702A>G

27 papers

NM_001089.3

p.R280C

c.838C>T

24 papers

NM_001089.3

p.Q215K

c.643C>A

22 papers

NM_001089.3

p.E690K

c.2068G>A

21 papers

NM_001089.3

p.L1553P

c.4658T>C

20 papers

NM_001089.3

p.L982P

c.2945T>C

19 papers

NM_001089.3

p.G1221S

c.3661G>A

19 papers

NM_001089.3

p.Q1591P

c.4772A>C

18 papers

NM_001089.3

p.T1114M

c.3341C>T