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

1 paper

NM_014576.4

p.R276*

c.826C>T

Surrounding Variants

1 paper

NM_014576.4

p.R276Q

c.827G>A

1 paper

NM_014576.4

p.E277K

c.829G>A

1 paper

NM_014576.4

p.A279T

c.835G>A

1 paper

NM_014576.4

p.H272R

c.815A>G

1 paper

NM_014576.4

p.V280I

c.838G>A

1 paper

NM_014576.4

p.V271A

c.812T>C

1 paper

NM_014576.4

p.V271M

c.811G>A

1 paper

NM_014576.4

p.Y268_A269insFs

c.804_805insG

1 paper

NM_014576.4

p.M283K

c.848T>A

1 paper

NM_014576.4

p.M283I

c.849G>T

1 paper

NM_014576.4

p.K284delFs

c.852delT

1 paper

NM_014576.4

p.R266Q

c.797G>A