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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOBEC4

APOBEC4

41 papers

RefSeq Summary

This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somat...

Pfam Domains

APOBEC4aa 1–236UCSCAPOBEC4

Gene Aliases

HGNC Name

apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4

HGNC Previous Symbol

C1orf169

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 34 variants

7 papers

chr1:183647970 A>G

NM_203454.3

p.F271S

c.812T>C

Exome: 39.1% (AC=572193, hom=114023)Genome: 39.7% (AC=60395, hom=12212)167 overlapping SVs

4 papers

chr1:183647791 T>C

NM_203454.3

p.K331E

c.991A>G

Exome: 39.1% (AC=572250, hom=114051)Genome: 39.7% (AC=60324, hom=12181)167 overlapping SVs

2 papers

chr1:183648778 C>G

NM_203454.3

p.E2Q

c.4G>C

APOBEC4

Exome: 0.0% (AC=0, hom=0)Genome: n/a169 overlapping SVs

2 papers

chr1:183648558 G>A

NM_203454.3

p.S75F

c.224C>T

APOBEC4

Exome: 3.5% (AC=51027, hom=1407)Genome: 6.9% (AC=10459, hom=631)168 overlapping SVs

2 papers

chr1:183647959 G>A

NM_203454.3

p.P275S

c.823C>T

Exome: 3.5% (AC=51017, hom=1405)Genome: 6.9% (AC=10456, hom=632)167 overlapping SVs

2 papers

chr1:183647749 C>T

NM_203454.3

p.V345M

c.1033G>A

Exome: 3.5% (AC=50922, hom=1404)Genome: 6.9% (AC=10438, hom=626)167 overlapping SVs

1 paper

chr1:183648704 G>A

NM_203454.3

p.L26L

c.78C>T

APOBEC4

Exome: 0.2% (AC=3127, hom=10)Genome: 0.2% (AC=254, hom=0)169 overlapping SVs

1 paper

chr1:183648582 G>A

NM_203454.3

p.T67I

c.200C>T

APOBEC4

Exome: 0.0% (AC=2, hom=0)Genome: n/a168 overlapping SVs

1 paper

chr1:183648547 C>A

NM_203454.3

p.V79L

c.235G>T

APOBEC4

Exome: n/aGenome: 0.0% (AC=1, hom=0)168 overlapping SVs

1 paper

chr1:183648547 C>G

NM_203454.3

p.V79L

c.235G>C

APOBEC4

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)168 overlapping SVs

1 paper

chr1:183648532 C>A

NM_203454.3

p.A84S

c.250G>T

APOBEC4

exact variant not in gnomAD168 overlapping SVs

1 paper

chr1:183648528 C>T

NM_203454.3

p.S85N

c.254G>A

APOBEC4

exact variant not in gnomAD168 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."