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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANXA8L1

ANXA8L1

11 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 25–90UCSCAnnexin

Annexinaa 97–162UCSCAnnexin

Annexinaa 124–190UCSCAnnexin

Annexinaa 200–265UCSCAnnexin

Gene Aliases

HGNC Name

annexin A8 like 1

HGNC Previous Symbol

ANXA8L2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

4 papers

chr10:46383535 C>T

NM_001098845.3

p.A134V

c.401C>T

Annexin

Exome: 22.9% (AC=164425, hom=10048)Genome: 18.1% (AC=10333, hom=417)29 overlapping SVs

1 paper

chr10:46383496 C>T

NM_001098845.3

p.A121V

c.362C>T

Annexin

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)29 overlapping SVs

1 paper

chr10:46384816 G>C

NM_001098845.3

p.A179P

c.535G>C

exact variant not in gnomAD29 overlapping SVs

1 paper

chr10:46385419 G>A

NM_001098845.3

p.E198K

c.592G>A

Annexin

exact variant not in gnomAD29 overlapping SVs

1 paper

chr10:46387621 G>A

NM_001098845.3

p.E260K

c.778G>A

Annexin

exact variant not in gnomAD29 overlapping SVs

1 paper

chr10:46387627 C>CN

NM_001098845.3

p.L262fs

c.784_785fs

Annexin

exact variant not in gnomAD29 overlapping SVs

1 paper

chr10:46388433 T>C

NM_001098845.3

p.V281A

c.842T>C

Annexin

Exome: 0.1% (AC=179, hom=0)Genome: 0.0% (AC=3, hom=0)29 overlapping SVs

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