Varaico: Literature-Extracted Genetic Variants

Gene:STN1
Variant:p.N316insFs

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.N316insFs
c.946_947ins4
Surrounding Variants
1 paper
NM_024928.5
p.N316fs
c.946_947fs
1 paper
NM_024928.5
p.C312F
c.935G>T
1 paper
NM_024928.5
p.C312R
c.934T>C
1 paper
NM_024928.5
p.D311G
c.932A>G
1 paper
NM_024928.5
p.H305D
c.913C>G
1 paper
NM_024928.5
p.I304N
c.911T>A
1 paper
NM_024928.5
p.L300P
c.899T>C
2 papers
NM_024928.5
p.K298insFs
c.894dupA
2 papers
NM_024928.5
p.D299fs
c.895_896fs
1 paper
NM_024928.5
p.Y292_V293Splc
c.877-1G>A
1 paper
NM_024928.5
p.Y292_V293Splc
c.876+2T>G
1 paper
NM_024928.5
p.Y291C
c.872A>G
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