Varaico: Literature-Extracted Genetic Variants

Gene:HUS1
Variant:p.T130S

HUS1

40 papers

RefSeq Summary

The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein...

Pfam Domains

Hus1aa 1–280UCSCHus1-like protein

Gene Aliases

HGNC Name

HUS1 checkpoint clamp component

HGNC Previous Names

HUS1 (S. pombe) checkpoint homolog; HUS1 checkpoint homolog (S. pombe)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004507.4
p.T130S
c.388A>T
Surrounding Variants
1 paper
NM_004507.4
p.T130S
c.389C>G
1 paper
NM_004507.4
p.V129E
c.386T>A
1 paper
NM_004507.4
p.P134L
c.401C>T
1 paper
NM_004507.4
p.K144E
c.430A>G
2 papers
NM_004507.4
p.Q147K
c.439C>A
1 paper
NM_004507.4
p.T165A
c.493A>G
1 paper
NM_004507.4
p.M166fs
c.496_497fs
1 paper
NM_004507.4
p.K167N
c.501G>T
1 paper
NM_004507.4
p.K167N
c.501G>C
1 paper
NM_004507.4
p.S168R
c.502A>C
1 paper
NM_004507.4
p.S168R
c.504T>G
1 paper
NM_004507.4
p.S168R
c.504T>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."