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.S291fs

c.871_872fs

Surrounding Variants

1 paper

NM_173076.3

p.S291N

c.872G>A

10 papers

NM_173076.3

p.R287*

c.859C>T

4 papers

NM_173076.3

p.R287G

c.859C>G

3 papers

NM_173076.3

p.Q274R

c.821A>G

1 paper

NM_173076.3

p.P270P

c.810A>G

1 paper

NM_173076.3

p.S268G

c.802A>G

1 paper

NM_173076.3

p.L266L

c.796C>T

1 paper

NM_173076.3

p.Q264*

c.790C>T

1 paper

NM_173076.3

p.Q264K

c.790C>A

3 papers

NM_173076.3

p.W263*

c.789G>A

3 papers

NM_173076.3

p.W263*

c.788G>A

1 paper

NM_173076.3

p.Q259Q

c.777G>A