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

8 papers

NM_001089.3

p.P32S

c.94C>T

Surrounding Variants

1 paper

NM_001089.3

p.L34V

c.100C>G

6 papers

NM_001089.3

p.L34P

c.101T>C

2 papers

NM_001089.3

p.I38F

c.112A>T

7 papers

NM_001089.3

p.L39V

c.115C>G

1 paper

NM_001089.3

p.V24A

c.71T>C

14 papers

NM_001089.3

p.R43C

c.127C>T

17 papers

NM_001089.3

p.R43L

c.128G>T

13 papers

NM_001089.3

p.R43H

c.128G>A

8 papers

NM_001089.3

p.R20L

c.59G>T

2 papers

NM_001089.3

p.R20Q

c.59G>A

2 papers

NM_001089.3

p.R20W

c.58C>T

1 paper

NM_001089.3

p.Q47delFs

c.140delT