Varaico: Literature-Extracted Genetic Variants

A1CF

266 papers

RefSeq Summary

Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation f...

Pfam Domains

RRM_1aa 58–127UCSCRNA recognition motif

RRM_1aa 138–203UCSCRNA recognition motif

RRM_1aa 233–297UCSCRNA recognition motif

DND1_DSRMaa 445–523UCSCdouble strand RNA binding domain from DEAD END PROTEIN 1

Gene Aliases

HGNC Name

APOBEC1 complementation factor

HGNC Alias Symbols

ACF; ASP; ACF64; ACF65; APOBEC1CF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014576.4

p.M87delFs

c.261delC

Surrounding Variants

1 paper

NM_014576.4

p.M89V

c.265A>G

1 paper

NM_014576.4

p.D90N

c.268G>A

1 paper

NM_014576.4

p.G93S

c.277G>A

1 paper

NM_014576.4

p.G93D

c.278G>A

1 paper

NM_014576.4

p.G93G

c.279C>A

1 paper

NM_014576.4

p.N94D

c.280A>G

1 paper

NM_014576.4

p.N94S

c.281A>G

1 paper

NM_014576.4

p.R96K

c.287G>A

1 paper

NM_014576.4

p.Y98insFs

c.292_293insA

1 paper

NM_014576.4

p.F100S

c.299T>C

1 paper

NM_014576.4

p.F103F

c.309T>C

1 paper

NM_014576.4

p.I113L

c.337A>C