Varaico: Literature-Extracted Genetic Variants

Gene:CD59
Variant:p.F96L

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
Selected Variant
1 paper
NM_000611.6
p.F96L
c.288T>G
Surrounding Variants
1 paper
NM_000611.6
p.F96fs
c.286_287fs
1 paper
NM_000611.6
p.F96L
c.288T>A
1 paper
NM_000611.6
p.F96L
c.286T>C
1 paper
NM_000611.6
p.N97I
c.290A>T
1 paper
NM_000611.6
p.N97K
c.291C>G
1 paper
NM_000611.6
p.N97K
c.291C>A
1 paper
NM_000611.6
p.E98Q
c.292G>C
1 paper
NM_000611.6
p.E98K
c.292G>A
1 paper
NM_000611.6
p.E98delFs
c.292_293delTC
3 papers
NM_000611.6
p.C94S
c.281G>C
1 paper
NM_000611.6
p.Q99E
c.295C>G
3 papers
NM_000611.6
p.C94S
c.280T>A
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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."