Varaico: Literature-Extracted Genetic Variants

Gene:CD59
Variant:p.L16V

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.L16V
c.46C>G
Surrounding Variants
1 paper
NM_000611.6
p.L16P
c.47T>C
1 paper
NM_000611.6
p.A17S
c.49G>T
1 paper
NM_000611.6
p.V15F
c.43G>T
1 paper
NM_000611.6
p.A17T
c.49G>A
1 paper
NM_000611.6
p.V15I
c.43G>A
1 paper
NM_000611.6
p.A17V
c.50C>T
1 paper
NM_000611.6
p.A17A
c.51T>A
2 papers
NM_000611.6
p.V18I
c.52G>A
1 paper
NM_000611.6
p.V18G
c.53T>G
1 paper
NM_000611.6
p.F19L
c.55T>C
1 paper
NM_000611.6
p.L12R
c.35T>G
1 paper
NM_000611.6
p.F19L
c.57C>G
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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."