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.S1116F

c.3347C>T

Surrounding Variants

1 paper

NM_001089.3

p.S1116P

c.3346T>C

1 paper

NM_001089.3

p.F1115L

c.3345C>G

1 paper

NM_001089.3

p.F1115L

c.3345C>A

1 paper

NM_001089.3

p.F1115L

c.3343T>C

1 paper

NM_001089.3

p.I1117M

c.3351C>G

18 papers

NM_001089.3

p.T1114M

c.3341C>T

2 papers

NM_001089.3

p.T1114S

c.3340A>T

5 papers

NM_001089.3

p.T1114A

c.3340A>G

1 paper

NM_001089.3

p.A1119E

c.3356C>A

3 papers

NM_001089.3

p.V1120F

c.3358G>T

1 paper

NM_001089.3

p.A1112G

c.3335C>G

1 paper

NM_001089.3

p.E1122K

c.3364G>A