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.L33R

c.98T>G

Surrounding Variants

1 paper

NM_001606.5

p.L33M

c.97C>A

1 paper

NM_001606.5

p.V34M

c.100G>A

1 paper

NM_001606.5

p.P32L

c.95C>T

1 paper

NM_001606.5

p.P32S

c.94C>T

1 paper

NM_001606.5

p.L33_L35ins1

c.99_104dup6

1 paper

NM_001606.5

p.F30L

c.90C>A

1 paper

NM_001606.5

p.I29N

c.86T>A

1 paper

NM_001606.5

p.V34_F37del0

c.101_109del9

1 paper

NM_001606.5

p.E28D

c.84G>T

1 paper

NM_001606.5

p.I38T

c.113T>C

1 paper

NM_001606.5

p.E28*

c.82G>T

1 paper

NM_001606.5

p.E28K

c.82G>A