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

7 papers

NM_001089.3

p.Q1589*

c.4765C>T

Surrounding Variants

1 paper

NM_001089.3

p.V1588M

c.4762G>A

19 papers

NM_001089.3

p.Q1591P

c.4772A>C

4 papers

NM_001089.3

p.L1584delFs

c.4751delA

1 paper

NM_001089.3

p.L1584R

c.4751T>G

2 papers

NM_001089.3

p.L1584fs

c.4750_4751fs

1 paper

NM_001089.3

p.R1583Q

c.4748G>A

10 papers

NM_001089.3

p.R1583W

c.4747C>T

6 papers

NM_001089.3

p.L1595P

c.4784T>C

4 papers

NM_001089.3

p.T1582S

c.4745C>G

4 papers

NM_001089.3

p.T1582S

c.4744A>T

16 papers

NM_001089.3

p.L1580P

c.4739T>C

1 paper

NM_001089.3

p.L1580V

c.4738C>G