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

1–12 of 959 variants

26 papers

NM_173076.3

p.N1380S

c.4139A>G

14 papers

NM_173076.3

p.R1514H

c.4541G>A

14 papers

NM_173076.3

p.G1651S

c.4951G>A

13 papers

NM_173076.3

p.E1098_Y1099Splc

c.3295-2A>G

13 papers

NM_173076.3

p.D2365N

c.7093G>A

12 papers

NM_173076.3

p.G1381E

c.4142G>A

12 papers

NM_173076.3

p.E1539K

c.4615G>A

12 papers

NM_173076.3

p.R2482*

c.7444C>T

11 papers

NM_173076.3

p.Y1090delFs

c.3270delA

10 papers

NM_173076.3

p.W199*

c.596G>A

10 papers

NM_173076.3

p.W199*

c.597G>A

10 papers

NM_173076.3

p.R287*

c.859C>T