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.V1359G

c.4076T>G

Surrounding Variants

1 paper

NM_173076.3

p.V1359fs

c.4075_4076fs

1 paper

NM_173076.3

p.V1361A

c.4082T>C

3 papers

NM_173076.3

p.S1357*

c.4070C>G

3 papers

NM_173076.3

p.S1357*

c.4070C>A

2 papers

NM_173076.3

p.V1351delFs

c.4051delC

2 papers

NM_173076.3

p.V1351fs

c.4051_4052fs

1 paper

NM_173076.3

p.H1372Y

c.4114C>T

3 papers

NM_173076.3

p.V1346delFs

c.4036delC

1 paper

NM_173076.3

p.V1346fs

c.4036_4037fs

1 paper

NM_015657.4

p.L1058L

c.3172T>C

1 paper

NM_173076.3

p.P1339S

c.4015C>T

26 papers

NM_173076.3

p.N1380S

c.4139A>G