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

2 papers

NM_173076.3

p.R1514C

c.4540C>T

Surrounding Variants

1 paper

NM_173076.3

p.R1514L

c.4541G>T

14 papers

NM_173076.3

p.R1514H

c.4541G>A

4 papers

NM_173076.3

p.R1515*

c.4543C>T

1 paper

NM_173076.3

p.R1515G

c.4543C>G

5 papers

NM_173076.3

p.R1515Q

c.4544G>A

1 paper

NM_173076.3

p.P1511A

c.4531C>G

1 paper

NM_173076.3

p.I1517L

c.4549A>T

1 paper

NM_173076.3

p.I1517L

c.4549A>C

1 paper

NM_173076.3

p.I1517R

c.4550T>G

3 papers

NM_173076.3

p.W1518*

c.4553G>A

3 papers

NM_173076.3

p.W1518*

c.4554G>A

2 papers

NM_173076.3

p.G1508V

c.4523G>T