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.G372R

c.1114G>A

Surrounding Variants

1 paper

NM_001606.5

p.G365_A375ins3

c.1094_1123dup30

1 paper

NM_001606.5

p.V376A

c.1127T>C

1 paper

NM_001606.5

p.M377K

c.1130T>A

1 paper

NM_001606.5

p.G378S

c.1132G>A

1 paper

NM_001606.5

p.P379S

c.1135C>T

1 paper

NM_001606.5

p.P379L

c.1136C>T

1 paper

NM_001606.5

p.A381T

c.1141G>A

1 paper

NM_001606.5

p.S362C

c.1084A>T

1 paper

NM_001606.5

p.A361V

c.1082C>T

1 paper

NM_001606.5

p.A361D

c.1082C>A

1 paper

NM_001606.5

p.A383S

c.1147G>T

1 paper

NM_001606.5

p.P359_P360ins1

c.1077_1078insGCA