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

1 paper

NM_001606.5

p.P188R

c.563C>G

Surrounding Variants

1 paper

NM_001606.5

p.P188H

c.563C>A

1 paper

NM_001606.5

p.P187S

c.559C>T

1 paper

NM_001606.5

p.R184S

c.550C>A

1 paper

NM_001606.5

p.A183A

c.549C>T

1 paper

NM_001606.5

p.A183T

c.547G>A

1 paper

NM_001606.5

p.L181V

c.541T>G

1 paper

NM_001606.5

p.A179V

c.536C>T

1 paper

NM_001606.5

p.A179delins

c.535_536delinsTT

1 paper

NM_001606.5

p.A177_Q178delins

c.531_532delinsAA

1 paper

NM_001606.5

p.N174D

c.520A>G

1 paper

NM_001606.5

p.P173fs

c.517_518fs

1 paper

NM_001606.5

p.S171L

c.512C>T