Varaico: Literature-Extracted Genetic Variants

ABCA12

385 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 900–1270UCSCABC-2 family transporter protein

ABC_tranaa 1361–1507UCSCABC transporter

ACT_13aa 1581–1657UCSCACT-like domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 12

HGNC Previous Symbol

ICR2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_173076.3

p.E1539K

c.4615G>A

Surrounding Variants

1 paper

NM_173076.3

p.D1538V

c.4613A>T

1 paper

NM_173076.3

p.D1538G

c.4613A>G

1 paper

NM_173076.3

p.A1540S

c.4618G>T

1 paper

NM_173076.3

p.L1537S

c.4610T>C

1 paper

NM_173076.3

p.H1536L

c.4607A>T

10 papers

NM_173076.3

p.T1534M

c.4601C>T

2 papers

NM_173076.3

p.R1546C

c.4636C>T

1 paper

NM_173076.3

p.R1546H

c.4637G>A

1 paper

NM_173076.3

p.I1530T

c.4589T>C

1 paper

NM_173076.3

p.I1530N

c.4589T>A

1 paper

NM_173076.3

p.A1548T

c.4642G>A

1 paper

NM_173076.3

p.T1529fs

c.4585_4586fs