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.S404L

c.1211C>T

Surrounding Variants

1 paper

NM_001606.5

p.V407V

c.1221A>G

1 paper

NM_001606.5

p.Q400Q

c.1200G>A

1 paper

NM_001606.5

p.Q408delins

c.1222_1223delinsTT

3 papers

NM_001606.5

p.T398K

c.1193C>A

1 paper

NM_001606.5

p.D397G

c.1190A>G

1 paper

NM_001606.5

p.G412G

c.1236C>T

1 paper

NM_001606.5

p.A394V

c.1181C>T

1 paper

NM_001606.5

p.A394P

c.1180G>C

1 paper

NM_001606.5

p.P415A

c.1243C>G

1 paper

NM_001606.5

p.A391T

c.1171G>A

1 paper

NM_001606.5

p.A390T

c.1168G>A

1 paper

NM_001606.5

p.A387A

c.1161A>T