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

1 paper

NM_001089.3

p.V937I

c.2809G>A

Surrounding Variants

1 paper

NM_001089.3

p.P933L

c.2798C>T

5 papers

NM_001089.3

p.L941P

c.2822T>C

1 paper

NM_001089.3

p.V930I

c.2788G>A

1 paper

NM_001089.3

p.Q929*

c.2785C>T

1 paper

NM_001089.3

p.S948L

c.2843C>T

1 paper

NM_001089.3

p.R921H

c.2762G>A

8 papers

NM_001089.3

p.D953H

c.2857G>C

3 papers

NM_001089.3

p.D953N

c.2857G>A

1 paper

NM_001089.3

p.W920*

c.2760G>A

1 paper

NM_001089.3

p.W920*

c.2759G>A

1 paper

NM_001089.3

p.K915del1

c.2743_2745delCTT

3 papers

NM_001089.3

p.K915N

c.2745G>T