Varaico: Literature-Extracted Genetic Variants

Gene:KNSTRN
Variant:p.T48I

KNSTRN

85 papers

Pfam Domains

SKAPaa 79–315UCSCSmall kinetochore-associated protein

Gene Aliases

HGNC Name

kinetochore localized astrin (SPAG5) binding protein

HGNC Previous Symbol

C15orf23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033286.4
p.T48I
c.143C>T
Surrounding Variants
1 paper
NM_033286.4
p.T48Fs
c.143delinsTTFs
3 papers
NM_033286.4
p.T47K
c.140C>A
1 paper
NM_033286.4
p.A41A
c.123C>A
1 paper
NM_033286.4
p.A41G
c.122C>G
1 paper
NM_033286.4
p.A41V
c.122C>T
1 paper
NM_033286.4
p.A41Fs
c.121delinsTTFs
6 papers
NM_033286.4
p.A40E
c.119C>A
1 paper
NM_033286.4
p.E57K
c.169G>A
1 paper
NM_033286.4
p.E59_K60del2
c.175_179del6
1 paper
NM_033286.4
p.E59_K60del1
c.176_178delAGA
1 paper
NM_033286.4
p.F34C
c.101T>G
1 paper
NM_033286.4
p.F34I
c.100T>A
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