Varaico: Literature-Extracted Genetic Variants

Gene:CD59

CD59

167 papers

RefSeq Summary

This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement ...

Pfam Domains

CD59aa 28–95UCSCCD59 glycoprotein

Gene Aliases

HGNC Name

CD59 molecule

HGNC Previous Symbols

MIC11; MIN1; MSK21; MIN2; MIN3; MIRL; MACIF; HRF20

Papers
RefSeq ID
Protein change
DNA change
1–12 of 190 variants
23 papers
NM_000611.6
p.C89Y
c.266G>A
11 papers
NM_000611.6
p.D49V
c.146A>T
9 papers
NM_000611.6
p.D49delFs
c.146delT
8 papers
NM_000611.6
p.D49fs
c.145_146fs
4 papers
NM_000611.6
p.G6G
c.18G>A
4 papers
NM_000611.6
p.S108*
c.323C>A
3 papers
NM_000611.6
p.M1V
c.1A>G
3 papers
NM_000611.6
p.Y29D
c.85T>G
3 papers
NM_000611.6
p.Y87D
c.259T>G
3 papers
NM_000611.6
p.C94S
c.280T>A
3 papers
NM_000611.6
p.C94S
c.281G>C
2 papers
NM_000611.6
p.M1T
c.2T>C
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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."