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.M1074R

c.3221T>G

Surrounding Variants

1 paper

NM_173076.3

p.I1081T

c.3242T>C

1 paper

NM_173076.3

p.V1085L

c.3253G>T

1 paper

NM_173076.3

p.V1085L

c.3253G>C

1 paper

NM_173076.3

p.V1085I

c.3253G>A

2 papers

NM_173076.3

p.K1086*

c.3256A>T

1 paper

NM_173076.3

p.F1061C

c.3182T>G

2 papers

NM_173076.3

p.K1087insFs

c.3260dupA

2 papers

NM_173076.3

p.L1088fs

c.3262_3263fs

1 paper

NM_173076.3

p.N1060K

c.3180C>G

1 paper

NM_173076.3

p.N1060K

c.3180C>A

3 papers

NM_173076.3

p.V1089F

c.3265G>T

1 paper

NM_173076.3

p.N1060Splc

c.3180-6T>G