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.M1642I

c.4926G>A

Surrounding Variants

1 paper

NM_173076.3

p.M1642I

c.4926G>T

1 paper

NM_173076.3

p.M1642I

c.4926G>C

1 paper

NM_173076.3

p.M1642K

c.4925T>A

1 paper

NM_173076.3

p.D1639N

c.4915G>A

1 paper

NM_173076.3

p.I1647S

c.4940T>G

1 paper

NM_173076.3

p.G1648E

c.4943G>A

1 paper

NM_173076.3

p.R1636Q

c.4907G>A

3 papers

NM_173076.3

p.Y1650*

c.4950C>G

3 papers

NM_173076.3

p.Y1650*

c.4950C>A

14 papers

NM_173076.3

p.G1651S

c.4951G>A

2 papers

NM_173076.3

p.L1632delFs

c.4896delC

2 papers

NM_173076.3

p.S1633fs

c.4897_4898fs