Varaico: Literature-Extracted Genetic Variants

Gene:STN1
Variant:p.R133*

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
4 papers
NM_024928.5
p.R133*
c.397C>T
Surrounding Variants
2 papers
NM_024928.5
p.T131M
c.392C>T
8 papers
NM_024928.5
p.R135T
c.404G>C
1 paper
NM_024928.5
p.G136S
c.406G>A
1 paper
NM_024928.5
p.G129R
c.385G>C
1 paper
NM_024928.5
p.G129R
c.385G>A
2 papers
NM_024928.5
p.R139L
c.416G>T
1 paper
NM_024928.5
p.R142K
c.425G>A
2 papers
NM_024928.5
p.E121K
c.361G>A
1 paper
NM_024928.5
p.E118fs
c.352_353fs
1 paper
NM_024928.5
p.Q117_E118del1
c.350_352delCTT
1 paper
NM_024928.5
p.K115R
c.344A>G
5 papers
NM_024928.5
p.T151A
c.451A>G
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