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.Q244P

c.731A>C

Surrounding Variants

3 papers

NM_173076.3

p.I241insFs

c.723dupA

3 papers

NM_173076.3

p.V242fs

c.724_725fs

1 paper

NM_173076.3

p.V247fs

c.739_740fs

1 paper

NM_173076.3

p.V247G

c.740T>G

1 paper

NM_173076.3

p.V247_R248delFs

c.740_743del4

4 papers

NM_173076.3

p.N237H

c.709A>C

1 paper

NM_173076.3

p.P236del1

c.706_708delGGG

1 paper

NM_173076.3

p.P236L

c.707C>T

1 paper

NM_173076.3

p.D235V

c.704A>T

2 papers

NM_173076.3

p.S233_S234del2

c.697_701del6

1 paper

NM_173076.3

p.F253delFs

c.758delA

1 paper

NM_173076.3

p.S254A

c.760T>G