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.V168I

c.502G>A

Surrounding Variants

1 paper

NM_014576.4

p.D165N

c.493G>A

2 papers

NM_014576.4

p.V163I

c.487G>A

1 paper

NM_014576.4

p.A173G

c.518C>G

1 paper

NM_014576.4

p.E161A

c.482A>C

1 paper

NM_014576.4

p.T176N

c.527C>A

1 paper

NM_014576.4

p.R179*

c.535C>T

1 paper

NM_014576.4

p.R179Q

c.536G>A

1 paper

NM_014576.4

p.M156K

c.467T>A

1 paper

NM_014576.4

p.E155delFs

c.465delC

2 papers

NM_014576.4

p.G180D

c.539G>A

1 paper

NM_014576.4

p.S154P

c.460T>C

1 paper

NM_014576.4

p.F183Y

c.548T>A