Varaico: Literature-Extracted Genetic Variants

Gene:NSFL1C
Variant:p.W187R

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.W187R
c.559T>A
Surrounding Variants
1 paper
NM_016143.5
p.W187R
c.559T>C
1 paper
NM_016143.5
p.G190G
c.570A>T
1 paper
NM_016143.5
p.L184_S192delFs
c.552_574del23
1 paper
NM_016143.5
p.H181N
c.541C>A
4 papers
NM_016143.5
p.L193L
c.579G>A
1 paper
NM_016143.5
p.Q202*
c.604C>T
1 paper
NM_016143.5
p.F209L
c.625T>C
1 paper
NM_016143.5
p.S212delFs
c.636delA
1 paper
NM_016143.5
p.R214C
c.640C>T
2 papers
NM_016143.5
p.G216Splc
c.647+5G>C
1 paper
NM_016143.5
p.Q230*
c.688C>T
1 paper
NM_016143.5
p.D234Y
c.700G>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."