Varaico: Literature-Extracted Genetic Variants

Gene:SNIP1
Variant:p.S58R

SNIP1

51 papers

RefSeq Summary

This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activ...

Pfam Domains

FHAaa 281–361UCSCFHA domain

Gene Aliases

HGNC Name

Smad nuclear interacting protein 1

HGNC Alias Symbol

PML1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_024700.4
p.S58R
c.174C>G
Surrounding Variants
3 papers
NM_024700.4
p.S58R
c.174C>A
3 papers
NM_024700.4
p.S58R
c.172A>C
1 paper
NM_024700.4
p.T57P
c.169A>C
1 paper
NM_024700.4
p.P46L
c.137C>T
1 paper
NM_024700.4
p.R45S
c.133C>A
1 paper
NM_024700.4
p.P41S
c.121C>T
3 papers
NM_024700.4
p.E37V
c.110A>T
1 paper
NM_024700.4
p.V28V
c.84G>A
1 paper
NM_024700.4
p.V27fs
c.79_80fs
1 paper
NM_024700.4
p.V27insFs
c.79dupG
1 paper
NM_024700.4
p.V27G
c.80T>G
1 paper
NM_024700.4
p.D18A
c.53A>C
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