Varaico: Literature-Extracted Genetic Variants

ABCA2

207 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 intracellular...

Pfam Domains

ABC2_membrane_3aa 685–912UCSCABC-2 family transporter protein

ABC_tranaa 1007–1151UCSCABC transporter

ACT_13aa 1243–1314UCSCACT-like domain

ABC2_membrane_3aa 1701–2008UCSCABC-2 family transporter protein

ABC_tranaa 2070–2214UCSCABC transporter

R1_ABCA1aa 2277–2350UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 2

HGNC Previous Symbol

ABC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001606.5

p.R164H

c.491G>A

Surrounding Variants

1 paper

NM_001606.5

p.L162I

c.484C>A

1 paper

NM_001606.5

p.E161fs

c.481_482fs

1 paper

NM_001606.5

p.E161K

c.481G>A

1 paper

NM_001606.5

p.Q168*

c.502C>T

1 paper

NM_001606.5

p.Q160*

c.478C>T

1 paper

NM_001606.5

p.N169D

c.505A>G

1 paper

NM_001606.5

p.N169I

c.506A>T

1 paper

NM_001606.5

p.R157delins

c.470_471delinsTT

1 paper

NM_001606.5

p.S171L

c.512C>T

1 paper

NM_001606.5

p.S171delins

c.511_512delinsAA

1 paper

NM_001606.5

p.R157G

c.469A>G

1 paper

NM_001606.5

p.P173fs

c.517_518fs