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

4 papers

NM_173076.3

p.R181*

c.541C>T

Surrounding Variants

1 paper

NM_173076.3

p.I180T

c.539T>C

1 paper

NM_173076.3

p.D179V

c.536A>T

5 papers

NM_173076.3

p.T176delFs

c.528delA

2 papers

NM_173076.3

p.C185R

c.553T>C

1 paper

NM_173076.3

p.S177fs

c.529_530fs

1 paper

NM_173076.3

p.C185*

c.555T>A

1 paper

NM_173076.3

p.T176N

c.527C>A

1 paper

NM_173076.3

p.S175L

c.524C>T

1 paper

NM_173076.3

p.L170L

c.508C>T

1 paper

NM_173076.3

p.K169_L170Splc

c.508-9T>A

1 paper

NM_173076.3

p.D195Y

c.583G>T

1 paper

NM_173076.3

p.D195E

c.585T>G