Varaico: Literature-Extracted Genetic Variants

Gene:CD59
Variant:p.L84L

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.L84L
c.252A>T
Surrounding Variants
1 paper
NM_000611.6
p.L84Q
c.251T>A
1 paper
NM_000611.6
p.T85M
c.254C>T
1 paper
NM_000611.6
p.E83G
c.248A>G
3 papers
NM_000611.6
p.Y87D
c.259T>G
1 paper
NM_000611.6
p.Y87H
c.259T>C
1 paper
NM_000611.6
p.N82Y
c.244A>T
2 papers
NM_000611.6
p.N82D
c.244A>G
1 paper
NM_000611.6
p.C88R
c.262T>C
1 paper
NM_000611.6
p.E81K
c.241G>A
2 papers
NM_000611.6
p.C89R
c.265T>C
1 paper
NM_000611.6
p.C89F
c.266G>T
23 papers
NM_000611.6
p.C89Y
c.266G>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."