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.V2291M

c.6871G>A

Surrounding Variants

1 paper

NM_173076.3

p.G2287_G2290del0

c.6861_6869del9

1 paper

NM_173076.3

p.N2292S

c.6875A>G

8 papers

NM_173076.3

p.F2286delFs

c.6858delA

3 papers

NM_173076.3

p.F2286fs

c.6856_6857fs

4 papers

NM_173076.3

p.F2286fs

c.6856_6857fs

1 paper

NM_173076.3

p.T2298I

c.6893C>T

1 paper

NM_173076.3

p.E2284_C2285Splc

c.6853-5A>G

4 papers

NM_173076.3

p.F2300L

c.6898T>C

4 papers

NM_173076.3

p.F2300L

c.6900C>G

5 papers

NM_173076.3

p.F2300L

c.6900C>A

1 paper

NM_173076.3

p.G2305G

c.6915A>G

2 papers

NM_173076.3

p.I2307fs

c.6919_6920fs