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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANXA8

ANXA8

16 papers

RefSeq Summary

This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits th...

Pfam Domains

Annexinaa 66–128UCSCAnnexin

Annexinaa 135–200UCSCAnnexin

Annexinaa 219–285UCSCAnnexin

Annexinaa 295–360UCSCAnnexin

Gene Aliases

HGNC Name

annexin A8

HGNC Previous Symbol

ANX8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr10:47474375 C>A

NM_001040084.3

p.K192N

c.576G>T

Annexin

Exome: 14.1% (AC=189221, hom=4699)Genome: 16.6% (AC=19555, hom=156)30 overlapping SVs

2 papers

chr10:47474375 C>G

NM_001040084.3

p.K192N

c.576G>C

Annexin

exact variant not in gnomAD30 overlapping SVs

1 paper

chr10:47483931 C>CA

NM_001040084.3

p.M1insFs

c.2dupT

exact variant not in gnomAD31 overlapping SVs

1 paper

chr10:47483918 A>C

NM_001040084.3

p.S6A

c.16T>G

Exome: 0.0% (AC=249, hom=4)Genome: 0.2% (AC=269, hom=5)31 overlapping SVs

1 paper

chr10:47479875 C>T

NM_001040084.3

p.G12D

c.35G>A

exact variant not in gnomAD29 overlapping SVs

1 paper

chr10:47478562 C>T

NM_001040084.3

p.A60T

c.178G>A

Annexin

Exome: 0.0% (AC=200, hom=0)Genome: 0.0% (AC=26, hom=0)29 overlapping SVs

1 paper

chr10:47477189 G>T

NM_001040084.3

p.L71L

c.213C>A

Annexin

exact variant not in gnomAD29 overlapping SVs

1 paper

chr10:47476304 C>T

NM_001040084.3

p.G114S

c.340G>A

Annexin

Exome: 0.4% (AC=1699, hom=51)Genome: 0.3% (AC=98, hom=1)30 overlapping SVs

1 paper

chr10:47476254 C>A

NM_001040084.3

p.E130D

c.390G>T

Annexin

exact variant not in gnomAD30 overlapping SVs

1 paper

chr10:47474380 C>T

NM_001040084.3

p.E191K

c.571G>A

Annexin

Exome: 0.0% (AC=468, hom=24)Genome: 0.3% (AC=359, hom=1)30 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."