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.L72V

c.214C>G

Surrounding Variants

1 paper

NM_014576.4

p.L72R

c.215T>G

1 paper

NM_014576.4

p.D70E

c.210T>A

1 paper

NM_014576.4

p.F68_E69insT

c.202_206ins3

1 paper

NM_014576.4

p.R65_L67insFs

c.193_200dup8

1 paper

NM_014576.4

p.L67F

c.199C>T

1 paper

NM_014576.4

p.R65Q

c.194G>A

1 paper

NM_014576.4

p.P64S

c.190C>T

1 paper

NM_014576.4

p.E57K

c.169G>A

1 paper

NM_014576.4

p.R54K

c.161G>A

1 paper

NM_014576.4

p.R54G

c.160A>G

1 paper

NM_014576.4

p.P51T

c.151C>A

1 paper

NM_014576.4

p.W47*

c.141G>A