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.P2509delFs

c.7526delG

Surrounding Variants

1 paper

NM_173076.3

p.P2509P

c.7527A>G

1 paper

NM_173076.3

p.P2509fs

c.7525_7526fs

1 paper

NM_173076.3

p.T2511P

c.7531A>C

1 paper

NM_173076.3

p.T2511K

c.7532C>A

2 papers

NM_173076.3

p.Y2512*

c.7536C>G

2 papers

NM_173076.3

p.Y2512*

c.7536C>A

1 paper

NM_173076.3

p.K2514_D2515Splc

c.7542+2T>G

1 paper

NM_173076.3

p.M2497T

c.7490T>C

1 paper

NM_173076.3

p.M2497K

c.7490T>A

2 papers

NM_173076.3

p.N2492S

c.7475A>G

1 paper

NM_173076.3

p.L2490L

c.7468T>C

12 papers

NM_173076.3

p.R2482*

c.7444C>T