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

3 papers

NM_014576.4

p.G390S

c.1168G>A

Surrounding Variants

1 paper

NM_014576.4

p.G392A

c.1175G>C

1 paper

NM_014576.4

p.V385M

c.1153G>A

1 paper

NM_014576.4

p.T397T

c.1191A>C

3 papers

NM_014576.4

p.G398S

c.1192G>A

1 paper

NM_014576.4

p.G398D

c.1193G>A

1 paper

NM_014576.4

p.G381Splc

c.1142-3T>C

2 papers

NM_014576.4

p.D412D

c.1236C>T

1 paper

NM_014576.4

p.M426I

c.1278G>T

1 paper

NM_014576.4

p.M426I

c.1278G>C

1 paper

NM_014576.4

p.M426I

c.1278G>A

1 paper

NM_014576.4

p.N427delFs

c.1279delT

1 paper

NM_014576.4

p.L431S

c.1292T>C