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

2 papers

NM_001089.3

p.K330_V331Splc

c.990+11C>T

Surrounding Variants

1 paper

NM_001089.3

p.K330M

c.989A>T

3 papers

NM_001089.3

p.L326R

c.977T>G

3 papers

NM_001089.3

p.L326P

c.977T>C

1 paper

NM_001089.3

p.L325delFs

c.973delG

1 paper

NM_001089.3

p.A320P

c.958G>C

2 papers

NM_001089.3

p.A320T

c.958G>A

1 paper

NM_001089.3

p.I318N

c.953T>A

1 paper

NM_001089.3

p.L316_I318Fs

c.948_954delinsAGCACFs

10 papers

NM_001089.3

p.W308R

c.922T>C

10 papers

NM_001089.3

p.W308R

c.922T>A

8 papers

NM_001089.3

p.A307V

c.920C>T

5 papers

NM_001089.3

p.L303V

c.907C>G