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.G46A

c.137G>C

Surrounding Variants

1 paper

NM_014576.4

p.P45L

c.134C>T

1 paper

NM_014576.4

p.W47*

c.141G>A

1 paper

NM_014576.4

p.P44P

c.132A>G

1 paper

NM_014576.4

p.P43S

c.127C>T

1 paper

NM_014576.4

p.P43T

c.127C>A

1 paper

NM_014576.4

p.P51T

c.151C>A

1 paper

NM_014576.4

p.G41S

c.121G>A

1 paper

NM_014576.4

p.R54G

c.160A>G

1 paper

NM_014576.4

p.R54K

c.161G>A

1 paper

NM_014576.4

p.R38K

c.113G>A

1 paper

NM_014576.4

p.Q37P

c.110A>C

1 paper

NM_014576.4

p.G36G

c.108A>G