Varaico: Literature-Extracted Genetic Variants

Gene:CD59
Variant:p.E101fs

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.E101fs
c.301_302fs
Surrounding Variants
1 paper
NM_000611.6
p.E101A
c.302A>C
1 paper
NM_000611.6
p.E101K
c.301G>A
1 paper
NM_000611.6
p.L100L
c.300T>A
1 paper
NM_000611.6
p.L100R
c.299T>G
1 paper
NM_000611.6
p.G103D
c.308G>A
1 paper
NM_000611.6
p.L100F
c.298C>T
2 papers
NM_000611.6
p.F96_Q99delFs
c.286_295del10
1 paper
NM_000611.6
p.Q99E
c.295C>G
1 paper
NM_000611.6
p.E98delFs
c.292_293delTC
2 papers
NM_000611.6
p.T105A
c.313A>G
1 paper
NM_000611.6
p.T105P
c.313A>C
1 paper
NM_000611.6
p.E98Q
c.292G>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."