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.R1485G

c.4453A>G

Surrounding Variants

1 paper

NM_173076.3

p.R1485W

c.4453A>T

1 paper

NM_173076.3

p.S1480L

c.4439C>T

2 papers

NM_173076.3

p.S1490P

c.4468T>C

2 papers

NM_173076.3

p.L1479P

c.4436T>C

9 papers

NM_173076.3

p.I1494T

c.4481T>C

1 paper

NM_173076.3

p.R1475delFs

c.4423delT

1 paper

NM_173076.3

p.R1475fs

c.4423_4424fs

2 papers

NM_173076.3

p.R1472C

c.4414C>T

2 papers

NM_015657.4

p.R1180T

c.3539G>C

NM_173076.3

p.R1498T

c.4493G>C

7 papers

NM_173076.3

p.H1471R

c.4412A>G

2 papers

NM_173076.3

p.E1504fs

c.4510_4511fs

2 papers

NM_173076.3

p.P1505L

c.4514C>T