Varaico: Literature-Extracted Genetic Variants

Gene:STN1
Variant:p.P158S

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.P158S
c.472C>T
Surrounding Variants
1 paper
NM_024928.5
p.D157V
c.470A>T
9 papers
NM_024928.5
p.D157Y
c.469G>T
1 paper
NM_024928.5
p.Q163H
c.489A>T
1 paper
NM_024928.5
p.R166G
c.496A>G
1 paper
NM_024928.5
p.L168L
c.504T>C
1 paper
NM_024928.5
p.T172A
c.514A>G
1 paper
NM_024928.5
p.I173N
c.518T>A
1 paper
NM_024928.5
p.Y174C
c.521A>G
1 paper
NM_024928.5
p.K176K
c.528A>G
1 paper
NM_024928.5
p.S185S
c.555A>G
1 paper
NM_024928.5
p.K189K
c.567A>G
5 papers
NM_024928.5
p.T151A
c.451A>G
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