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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STN1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 109 variants

9 papers

chr10:103898989 C>A

NM_024928.5

p.D157Y

c.469G>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a29 overlapping SVs

8 papers

chr10:103900115 C>G

NM_024928.5

p.R135T

c.404G>C

tRNA_anti-codon

Exome: 0.0% (AC=1, hom=0)Genome: n/a29 overlapping SVs

6 papers

chr10:103897558 G>C

NM_024928.5

p.S248C

c.743C>G

STN1_2

Exome: 90.7% (AC=1325101, hom=602388)Genome: 84.6% (AC=128854, hom=55458)29 overlapping SVs

5 papers

chr10:103900068 T>C

NM_024928.5

p.T151A

c.451A>G

tRNA_anti-codon

Exome: 90.7% (AC=1325010, hom=602320)Genome: 84.6% (AC=128823, hom=55440)29 overlapping SVs

4 papers

chr10:103900122 G>A

NM_024928.5

p.R133*

c.397C>T

tRNA_anti-codon

Exome: 0.0% (AC=71, hom=0)Genome: 0.0% (AC=10, hom=0)29 overlapping SVs

3 papers

chr10:103882806 C>G

NM_024928.5

p.A329P

c.985G>C

STN1_2

exact variant not in gnomAD27 overlapping SVs

2 papers

chr10:103905153 T>G

NM_024928.5

p.D78A

c.233A>C

tRNA_anti-codon

exact variant not in gnomAD29 overlapping SVs

2 papers

chr10:103905102 T>C

NM_024928.5

p.E95G

c.284A>G

tRNA_anti-codon

exact variant not in gnomAD29 overlapping SVs

2 papers

chr10:103905096 A>G

NM_024928.5

p.V97A

c.290T>C

tRNA_anti-codon

Exome: 0.0% (AC=1, hom=0)Genome: n/a29 overlapping SVs

2 papers

chr10:103900214 C>G

NM_024928.5

p.S102T

c.305G>C

tRNA_anti-codon

exact variant not in gnomAD29 overlapping SVs

2 papers

chr10:103900158 C>T

NM_024928.5

p.E121K

c.361G>A

tRNA_anti-codon

Exome: 0.3% (AC=5016, hom=43)Genome: 0.5% (AC=786, hom=10)29 overlapping SVs

2 papers

chr10:103900127 G>A

NM_024928.5

p.T131M

c.392C>T

tRNA_anti-codon

Exome: 0.0% (AC=133, hom=1)Genome: 0.0% (AC=10, hom=0)29 overlapping SVs

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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."