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.G2321Splc

c.6963-6A>G

Surrounding Variants

1 paper

NM_173076.3

p.H2325N

c.6973C>A

2 papers

NM_173076.3

p.C2336G

c.7006T>G

2 papers

NM_173076.3

p.C2336R

c.7006T>C

1 paper

NM_173076.3

p.D2340E

c.7020T>G

1 paper

NM_173076.3

p.D2340E

c.7020T>A

1 paper

NM_173076.3

p.V2348L

c.7042G>T

13 papers

NM_173076.3

p.D2365N

c.7093G>A

1 paper

NM_173076.3

p.D2365V

c.7094A>T

1 paper

NM_173076.3

p.E2368_T2369Splc

c.7104+6T>A

3 papers

NM_173076.3

p.G2321Splc

c.6962+1G>A

2 papers

NM_173076.3

p.I2314T

c.6941T>C

1 paper

NM_173076.3

p.P2309delFs

c.6926delG