Varaico: Literature-Extracted Genetic Variants

Gene:STN1
Variant:p.Y291C

STN1

80 papers

RefSeq Summary

OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication...

Pfam Domains

tRNA_anti-codonaa 57–155UCSCOB-fold nucleic acid binding domain
STN1_2aa 202–368UCSCCST, complex subunit STN1, C terminal

Gene Aliases

HGNC Name

STN1 subunit of CST complex

HGNC Previous Symbol

OBFC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024928.5
p.Y291C
c.872A>G
Surrounding Variants
1 paper
NM_024928.5
p.Y292_V293Splc
c.876+2T>G
1 paper
NM_024928.5
p.G278E
c.833G>A
1 paper
NM_024928.5
p.G278R
c.832G>C
1 paper
NM_024928.5
p.G278R
c.832G>A
1 paper
NM_024928.5
p.Q272*
c.814C>T
1 paper
NM_024928.5
p.I271M
c.813A>G
1 paper
NM_024928.5
p.A270V
c.809C>T
1 paper
NM_024928.5
p.S265R
c.795T>G
1 paper
NM_024928.5
p.S265R
c.795T>A
1 paper
NM_024928.5
p.S265R
c.793A>C
1 paper
NM_024928.5
p.Y292_V293Splc
c.877-1G>A
2 papers
NM_024928.5
p.K298insFs
c.894dupA
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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."