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

1–12 of 199 variants

4 papers

NM_014576.4

p.G13D

c.38G>A

3 papers

NM_014576.4

p.G390S

c.1168G>A

3 papers

NM_014576.4

p.G398S

c.1192G>A

2 papers

NM_014576.4

p.G13V

c.38G>T

2 papers

NM_014576.4

p.R26H

c.77G>A

2 papers

NM_014576.4

p.S30insFs

c.88_89insG

2 papers

NM_014576.4

p.E34K

c.100G>A

2 papers

NM_014576.4

p.M87delFs

c.261delC

2 papers

NM_014576.4

p.D134N

c.400G>A

2 papers

NM_014576.4

p.V163I

c.487G>A

2 papers

NM_014576.4

p.G180D

c.539G>A

2 papers

NM_014576.4

p.E219V

c.656A>T