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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANXA3

ANXA3

53 papers

RefSeq Summary

This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pat...

Pfam Domains

Annexinaa 22–87UCSCAnnexin

Annexinaa 94–159UCSCAnnexin

Annexinaa 177–243UCSCAnnexin

Annexinaa 253–318UCSCAnnexin

Gene Aliases

HGNC Name

annexin A3

HGNC Previous Symbol

ANX3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 44 variants

3 papers

chr4:78604334 G>A

NM_005139.3

p.D283N

c.847G>A

Annexin

Exome: n/aGenome: 0.0% (AC=1, hom=0)96 overlapping SVs

2 papers

chr4:78573220 G>A

NM_005139.3

p.S19N

c.56G>A

Exome: 0.1% (AC=2190, hom=60)Genome: 1.4% (AC=2130, hom=55)95 overlapping SVs

2 papers

chr4:78573268 G>T

NM_005139.3

p.G35V

c.104G>T

exact variant not in gnomAD95 overlapping SVs

2 papers

chr4:78579027 G>T

NM_005139.3

p.G35V

c.104G>T

Annexin

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)96 overlapping SVs

2 papers

chr4:78579081 G>A

NM_005139.3

p.R53Q

c.158G>A

Annexin

Exome: 0.2% (AC=2627, hom=5)Genome: 0.2% (AC=231, hom=1)96 overlapping SVs

2 papers

chr4:78582203 T>A

NM_005139.3

p.D75E

c.225T>A

Annexin

exact variant not in gnomAD95 overlapping SVs

2 papers

chr4:78582203 T>G

NM_005139.3

p.D75E

c.225T>G

Annexin

exact variant not in gnomAD95 overlapping SVs

2 papers

chr4:78582228 A>C

NM_005139.3

p.M84L

c.250A>C

Annexin

Exome: 0.0% (AC=401, hom=0)Genome: 0.0% (AC=1, hom=0)95 overlapping SVs

2 papers

chr4:78582228 A>T

NM_005139.3

p.M84L

c.250A>T

Annexin

exact variant not in gnomAD95 overlapping SVs

2 papers

chr4:78586264 C>T

NM_005139.3

p.A106V

c.317C>T

Annexin

Exome: 1.1% (AC=16087, hom=119)Genome: 1.5% (AC=2302, hom=22)96 overlapping SVs

2 papers

chr4:78601531 C>T

NM_005139.3

p.P251L

c.752C>T

Exome: 0.1% (AC=838, hom=1)Genome: 0.2% (AC=290, hom=1)95 overlapping SVs

2 papers

chr4:78604307 C>T

NM_005139.3

p.R274*

c.820C>T

Annexin

Exome: 0.0% (AC=69, hom=0)Genome: 0.0% (AC=6, hom=0)96 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."