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.E219V

c.656A>T

Surrounding Variants

1 paper

NM_014576.4

p.A216A

c.648A>C

1 paper

NM_014576.4

p.D223insFs

c.667_668insT

1 paper

NM_014576.4

p.A212T

c.634G>A

1 paper

NM_014576.4

p.V230A

c.689T>C

1 paper

NM_014576.4

p.L206L

c.616T>C

1 paper

NM_014576.4

p.L233P

c.698T>C

1 paper

NM_014576.4

p.V235I

c.703G>A

1 paper

NM_014576.4

p.R203K

c.608G>A

1 paper

NM_014576.4

p.S241T

c.721T>A

1 paper

NM_014576.4

p.E245insFs

c.734_735insC

1 paper

NM_014576.4

p.P256S

c.766C>T

1 paper

NM_014576.4

p.K264K

c.792A>G