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

4 papers

NM_001089.3

p.R1550W

c.4648C>T

Surrounding Variants

3 papers

NM_001089.3

p.L1552P

c.4655T>C

21 papers

NM_001089.3

p.L1553P

c.4658T>C

1 paper

NM_001089.3

p.D1546N

c.4636G>A

3 papers

NM_001089.3

p.W1554*

c.4661G>A

3 papers

NM_001089.3

p.W1554*

c.4662G>A

5 papers

NM_001089.3

p.R1559*

c.4675C>T

1 paper

NM_001089.3

p.E1540Q

c.4618G>C

2 papers

NM_001089.3

p.E1540K

c.4618G>A

1 paper

NM_001089.3

p.D1539H

c.4615G>C

1 paper

NM_001089.3

p.D1539N

c.4615G>A

12 papers

NM_001089.3

p.R1561*

c.4681C>T

2 papers

NM_001089.3

p.R1561Q

c.4682G>A