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.L1149P

c.3446T>C

Surrounding Variants

1 paper

NM_173076.3

p.Y1150C

c.3449A>G

3 papers

NM_173076.3

p.F1151Y

c.3452T>A

9 papers

NM_173076.3

p.S1152S

c.3456G>A

1 paper

NM_173076.3

p.F1145F

c.3435C>T

1 paper

NM_015657.4

p.T824_N825delFs

c.2472_2473delTT

10 papers

NM_173076.3

p.S1157L

c.3470C>T

1 paper

NM_173076.3

p.I1138V

c.3412A>G

1 paper

NM_173076.3

p.M1161L

c.3481A>T

1 paper

NM_173076.3

p.M1161L

c.3481A>C

7 papers

NM_173076.3

p.G1136D

c.3407G>A

1 paper

NM_173076.3

p.I1165T

c.3494T>C

1 paper

NM_173076.3

p.V1167I

c.3499G>A