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.T2413M

c.7238C>T

Surrounding Variants

1 paper

NM_001606.5

p.E2414Q

c.7240G>C

1 paper

NM_001606.5

p.S2420R

c.7258A>C

1 paper

NM_001606.5

p.S2420R

c.7260C>G

1 paper

NM_001606.5

p.S2420R

c.7260C>A

1 paper

NM_001606.5

p.E2423Q

c.7267G>C

1 paper

NM_001606.5

p.R2425Q

c.7274G>A

1 paper

NM_001606.5

p.A2396A

c.7188C>T

1 paper

NM_001606.5

p.R2394P

c.7181G>C

3 papers

NM_001606.5

p.R2394Q

c.7181G>A

1 paper

NM_001606.5

p.R2392Q

c.7175G>A

1 paper

NM_001606.5

p.S2378F

c.7133C>T

1 paper

NM_212533.3

p.R2455_A2456Splc

c.7365+71G>C