Varaico: Literature-Extracted Genetic Variants

Gene:USB1
Variant:p.Q228*

USB1

88 papers

RefSeq Summary

This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenoty...

Pfam Domains

HVSLaa 43–157UCSCUncharacterised conserved protein

Gene Aliases

HGNC Name

U6 snRNA biogenesis phosphodiesterase 1

HGNC Previous Symbol

C16orf57

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_024598.4
p.Q228*
c.682C>T
Surrounding Variants
7 papers
NM_024598.4
p.Q225*
c.673C>T
6 papers
NM_024598.4
p.Q231_A232Splc
c.693+1G>T
1 paper
NM_024598.4
p.L222_C226delFs
c.666_676del11
1 paper
NM_024598.4
p.S210C
c.628A>T
2 papers
NM_024598.4
p.H208Q
c.624C>A
2 papers
NM_024598.4
p.H208Q
c.624C>G
5 papers
NM_024598.4
p.H208R
c.623A>G
1 paper
NM_024598.4
p.H208L
c.623A>T
2 papers
NM_024598.4
p.H208N
c.622C>A
1 paper
NM_024598.4
p.Q231_A232Splc
c.694-114G>A
1 paper
NM_024598.4
p.I233L
c.697A>C
1 paper
NM_024598.4
p.D235V
c.704A>T
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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."