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

1 paper

NM_173076.3

p.S1180T

c.3539G>C

Surrounding Variants

1 paper

NM_173076.3

p.G1179*

c.3535G>T

10 papers

NM_173076.3

p.G1179R

c.3535G>C

10 papers

NM_173076.3

p.G1179R

c.3535G>A

1 paper

NM_173076.3

p.Y1183H

c.3547T>C

2 papers

NM_173076.3

p.Y1183C

c.3548A>G

1 paper

NM_173076.3

p.I1185V

c.3553A>G

1 paper

NM_173076.3

p.I1174T

c.3521T>C

1 paper

NM_173076.3

p.F1188Y

c.3563T>A

1 paper

NM_173076.3

p.V1167I

c.3499G>A

1 paper

NM_173076.3

p.I1165T

c.3494T>C

1 paper

NM_173076.3

p.M1161L

c.3481A>T

1 paper

NM_173076.3

p.M1161L

c.3481A>C