Varaico: Literature-Extracted Genetic Variants

Gene:MNDA
Variant:p.S165R

MNDA

86 papers

RefSeq Summary

The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region...

Pfam Domains

PYRINaa 8–80UCSCPAAD/DAPIN/Pyrin domain
HINaa 208–374UCSCHIN-200/IF120x domain

Gene Aliases

HGNC Name

myeloid cell nuclear differentiation antigen

HGNC Alias Symbol

PYHIN3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002432.3
p.S165R
c.493A>C
Surrounding Variants
1 paper
NM_002432.3
p.S165R
c.495C>A
1 paper
NM_002432.3
p.S165R
c.495C>G
1 paper
NM_002432.3
p.S167Y
c.500C>A
1 paper
NM_002432.3
p.S167F
c.500C>T
1 paper
NM_002432.3
p.A168G
c.503C>G
1 paper
NM_002432.3
p.P161R
c.482C>G
1 paper
NM_002432.3
p.D171Y
c.511G>T
1 paper
NM_002432.3
p.L175I
c.523C>A
1 paper
NM_002432.3
p.L175Q
c.524T>A
1 paper
NM_002432.3
p.P176T
c.526C>A
1 paper
NM_002432.3
p.Q177*
c.529C>T
2 papers
NM_002432.3
p.T178I
c.533C>T
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