Varaico: Literature-Extracted Genetic Variants

Gene:STN1
Variant:p.S248C

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
6 papers
NM_024928.5
p.S248C
c.743C>G
Surrounding Variants
1 paper
NM_024928.5
p.A247D
c.740C>A
1 paper
NM_024928.5
p.D250N
c.748G>A
1 paper
NM_024928.5
p.Q251_V252Splc
c.753+6T>C
1 paper
NM_024928.5
p.Q241H
c.723G>T
1 paper
NM_024928.5
p.Q241H
c.723G>C
1 paper
NM_024928.5
p.Q241*
c.721C>T
2 papers
NM_024928.5
p.L236P
c.707T>C
1 paper
NM_024928.5
p.V232V
c.696G>C
1 paper
NM_024928.5
p.M231T
c.692T>C
1 paper
NM_024928.5
p.F224S
c.671T>C
1 paper
NM_024928.5
p.E218K
c.652G>A
1 paper
NM_024928.5
p.L216H
c.647T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."