Varaico: Literature-Extracted Genetic Variants

Gene:NSFL1C
Variant:p.S284R

NSFL1C

143 papers

RefSeq Summary

N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments....

Pfam Domains

UBA_4aa 6–48UCSCUBA-like domain
SEPaa 184–258UCSCSEP domain
UBXaa 290–369UCSCUBX domain

Gene Aliases

HGNC Name

NSFL1 cofactor

HGNC Alias Symbols

dJ776F14.1; p47; UBXD10; UBX1; UBXN2C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016143.5
p.S284R
c.852C>G
Surrounding Variants
1 paper
NM_016143.5
p.S284C
c.850A>T
5 papers
NM_016143.5
p.D290N
c.868G>A
3 papers
NM_016143.5
p.P294S
c.880C>T
1 paper
NM_016143.5
p.S271I
c.812G>T
1 paper
NM_016143.5
p.L302insFs
c.904_905insC
1 paper
NM_016143.5
p.A303T
c.907G>A
1 paper
NM_016143.5
p.S262S
c.786C>T
1 paper
NM_016143.5
p.R307R
c.919A>C
1 paper
NM_016143.5
p.V309M
c.925G>A
1 paper
NM_016143.5
p.S319C
c.955A>T
1 paper
NM_016143.5
p.F324L
c.970T>C
1 paper
NM_016143.5
p.F324L
c.972C>G
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