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

13 papers

NM_173076.3

p.E1098_Y1099Splc

c.3295-2A>G

Surrounding Variants

3 papers

NM_173076.3

p.E1098_Y1099Splc

c.3295-1G>A

1 paper

NM_173076.3

p.Y1099fs

c.3295_3296fs

4 papers

NM_173076.3

p.M1100R

c.3299T>G

1 paper

NM_173076.3

p.M1102V

c.3304A>G

1 paper

NM_173076.3

p.Y1099_K1101del3

c.3295_3302del9

1 paper

NM_173076.3

p.F1112S

c.3335T>C

1 paper

NM_173076.3

p.I1128fs

c.3382_3383fs

7 papers

NM_173076.3

p.G1136D

c.3407G>A

1 paper

NM_173076.3

p.I1138V

c.3412A>G

1 paper

NM_015657.4

p.T824_N825delFs

c.2472_2473delTT

1 paper

NM_173076.3

p.F1145F

c.3435C>T

1 paper

NM_173076.3

p.L1149P

c.3446T>C