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.V1617fs

c.4849_4850fs

Surrounding Variants

1 paper

NM_173076.3

p.L1616insFs

c.4848dupT

1 paper

NM_173076.3

p.G1614V

c.4841G>T

1 paper

NM_173076.3

p.L1620V

c.4858C>G

1 paper

NM_173076.3

p.G1613E

c.4838G>A

1 paper

NM_173076.3

p.K1609Q

c.4825A>C

2 papers

NM_173076.3

p.E1605K

c.4813G>A

1 paper

NM_173076.3

p.L1603V

c.4807C>G

2 papers

NM_173076.3

p.L1632delFs

c.4896delC

2 papers

NM_173076.3

p.S1633fs

c.4897_4898fs

1 paper

NM_173076.3

p.R1636Q

c.4907G>A

1 paper

NM_173076.3

p.D1639N

c.4915G>A

1 paper

NM_173076.3

p.M1642K

c.4925T>A