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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANXA9

ANXA9

64 papers

RefSeq Summary

The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. Th...

Pfam Domains

Annexinaa 45–110UCSCAnnexin

Annexinaa 117–182UCSCAnnexin

Annexinaa 201–264UCSCAnnexin

Annexinaa 274–339UCSCAnnexin

Gene Aliases

HGNC Name

annexin A9

HGNC Previous Symbol

ANX31

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 43 variants

13 papers

chr1:150986360 A>G

NM_003568.3

p.D166G

c.497A>G

Annexin

Exome: 14.5% (AC=211818, hom=16393)Genome: 11.7% (AC=17801, hom=1227)236 overlapping SVs

3 papers

chr1:150983106 A>G

NM_003568.3

p.M1V

c.1A>G

Exome: 3.4% (AC=49809, hom=1029)Genome: 2.5% (AC=3855, hom=76)238 overlapping SVs

3 papers

chr1:150983993 T>C

NM_003568.3

p.I64T

c.191T>C

Annexin

Exome: 0.0% (AC=325, hom=0)Genome: 0.0% (AC=39, hom=0)237 overlapping SVs

3 papers

chr1:150988117 G>A

NM_003568.3

p.G242R

c.724G>A

Annexin

Exome: 0.7% (AC=10100, hom=54)Genome: 0.6% (AC=871, hom=6)236 overlapping SVs

3 papers

chr1:150988117 G>C

NM_003568.3

p.G242R

c.724G>C

Annexin

exact variant not in gnomAD236 overlapping SVs

2 papers

chr1:150984353 A>G

NM_003568.3

p.T114A

c.340A>G

Exome: 0.3% (AC=3921, hom=72)Genome: 1.8% (AC=2801, hom=85)237 overlapping SVs

2 papers

chr1:150984368 G>A

NM_003568.3

p.A119T

c.355G>A

Annexin

Exome: 0.0% (AC=666, hom=8)Genome: 0.4% (AC=669, hom=8)237 overlapping SVs

2 papers

chr1:150986501 T>C

NM_003568.3

p.K184_G185Splc

c.552+86T>C

Exome: 45.0% (AC=639778, hom=147748)Genome: 47.3% (AC=71904, hom=17359)236 overlapping SVs

1 paper

chr1:150983163 C>A

NM_003568.3

p.L20M

c.58C>A

exact variant not in gnomAD238 overlapping SVs

1 paper

chr1:150983166 G>T

NM_003568.3

p.G21C

c.61G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a237 overlapping SVs

1 paper

chr1:150983344 G>A

NM_003568.3

p.A28T

c.82G>A

Exome: 0.1% (AC=1159, hom=18)Genome: 0.9% (AC=1320, hom=18)237 overlapping SVs

1 paper

chr1:150983351 G>A

NM_003568.3

p.G30E

c.89G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a237 overlapping SVs

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