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.I698I

c.2094C>T

Surrounding Variants

1 paper

NM_001089.3

p.S699A

c.2095T>G

5 papers

NM_001089.3

p.D696N

c.2086G>A

1 paper

NM_001089.3

p.G694V

c.2081G>T

1 paper

NM_001089.3

p.G694D

c.2081G>A

1 paper

NM_001089.3

p.I703T

c.2108T>C

6 papers

NM_001089.3

p.S693L

c.2078C>T

2 papers

NM_001089.3

p.T692P

c.2074A>C

2 papers

NM_001089.3

p.E690D

c.2070G>T

2 papers

NM_001089.3

p.E690D

c.2070G>C

1 paper

NM_001089.3

p.L707F

c.2119C>T

2 papers

NM_001089.3

p.E690V

c.2069A>T

5 papers

NM_001089.3

p.E690G

c.2069A>G