Varaico: Literature-Extracted Genetic Variants

Gene:CD59
Variant:p.N43H

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.N43H
c.127A>C
Surrounding Variants
1 paper
NM_000611.6
p.N43Y
c.127A>T
1 paper
NM_000611.6
p.V42fs
c.124_125fs
1 paper
NM_000611.6
p.N43S
c.128A>G
1 paper
NM_000611.6
p.V42I
c.124G>A
1 paper
NM_000611.6
p.A41delFs
c.123delG
2 papers
NM_000611.6
p.V42fs
c.124_125fs
2 papers
NM_000611.6
p.A41fs
c.121_122fs
1 paper
NM_000611.6
p.S45fs
c.133_134fs
1 paper
NM_000611.6
p.T40I
c.119C>T
1 paper
NM_000611.6
p.T40S
c.118A>T
1 paper
NM_000611.6
p.S46F
c.137C>T
1 paper
NM_000611.6
p.C38Y
c.113G>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."