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.S30insFs

c.88_89insG

Surrounding Variants

1 paper

NM_014576.4

p.L31*

c.92T>A

1 paper

NM_014576.4

p.Q33K

c.97C>A

2 papers

NM_014576.4

p.R26H

c.77G>A

1 paper

NM_014576.4

p.L23insFs

c.68_69insT

1 paper

NM_014576.4

p.A18G

c.53C>G

1 paper

NM_014576.4

p.E17K

c.49G>A

1 paper

NM_014576.4

p.K16N

c.48G>C

1 paper

NM_014576.4

p.T14A

c.40A>G

2 papers

NM_014576.4

p.G13V

c.38G>T

4 papers

NM_014576.4

p.G13D

c.38G>A

1 paper

NM_014576.4

p.G13R

c.37G>C

1 paper

NM_014576.4

p.G10G

c.30A>G