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.K145R

c.434A>G

Surrounding Variants

1 paper

NM_014576.4

p.G142G

c.426C>A

1 paper

NM_014576.4

p.G141A

c.422G>C

1 paper

NM_014576.4

p.V140G

c.419T>G

1 paper

NM_014576.4

p.E151K

c.451G>A

1 paper

NM_014576.4

p.I152I

c.456C>T

1 paper

NM_014576.4

p.S154P

c.460T>C

1 paper

NM_014576.4

p.N135T

c.404A>C

1 paper

NM_014576.4

p.E155delFs

c.465delC

1 paper

NM_014576.4

p.M156K

c.467T>A

1 paper

NM_014576.4

p.D134G

c.401A>G

2 papers

NM_014576.4

p.D134N

c.400G>A

1 paper

NM_014576.4

p.S132N

c.395G>A