Varaico: Literature-Extracted Genetic Variants

Gene:ANXA5

ANXA5

608 papers

RefSeq Summary

The Annexin 5 gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.The protein encoded by this ge...

Pfam Domains

Annexinaa 19–84UCSCAnnexin
Annexinaa 91–156UCSCAnnexin
Annexinaa 174–240UCSCAnnexin
Annexinaa 250–315UCSCAnnexin

Gene Aliases

HGNC Name

annexin A5

HGNC Previous Symbols

ENX2; ANX5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 200 variants
10 papers
NM_001154.4
p.V141A
c.422T>C
8 papers
NM_001154.4
p.G7S
c.19G>A
5 papers
NM_001154.4
p.M1L
c.1A>C
3 papers
NM_001154.4
p.E78Q
c.232G>C
3 papers
NM_001154.4
p.Y148H
c.442T>C
3 papers
NM_001154.4
p.R201*
c.601C>T
3 papers
NM_001154.4
p.E228Q
c.682G>C
3 papers
NM_001154.4
p.E228A
c.683A>C
3 papers
NM_001154.4
p.D303N
c.907G>A
2 papers
NM_001154.4
p.F12I
c.34T>A
2 papers
NM_001154.4
p.A27T
c.79G>A
2 papers
NM_001154.4
p.E35D
c.105G>T
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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."