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.N1524K

c.4572C>A

Surrounding Variants

1 paper

NM_173076.3

p.N1524K

c.4572C>G

1 paper

NM_173076.3

p.S1522Y

c.4565C>A

1 paper

NM_173076.3

p.S1522T

c.4564T>A

1 paper

NM_173076.3

p.A1527Splc

c.4579+3A>G

3 papers

NM_173076.3

p.A1527Splc

c.4579+5G>A

1 paper

NM_173076.3

p.V1520F

c.4558G>T

3 papers

NM_173076.3

p.W1518*

c.4554G>A

3 papers

NM_173076.3

p.W1518*

c.4553G>A

1 paper

NM_173076.3

p.I1517R

c.4550T>G

1 paper

NM_173076.3

p.I1517L

c.4549A>T

1 paper

NM_173076.3

p.I1517L

c.4549A>C

5 papers

NM_173076.3

p.R1515Q

c.4544G>A