Varaico: Literature-Extracted Genetic Variants

Gene:NSFL1C
Variant:p.G46R

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.G46R
c.136G>A
Surrounding Variants
1 paper
NM_016143.5
p.S40C
c.118A>T
1 paper
NM_016143.5
p.S62T
c.184T>A
1 paper
NM_016143.5
p.R63K
c.188G>A
1 paper
NM_016143.5
p.T65S
c.193A>T
2 papers
NM_016143.5
p.S68Splc
c.203+1G>A
1 paper
NM_016143.5
p.W32*
c.95G>A
1 paper
NM_016143.5
p.A30A
c.90C>A
1 paper
NM_016143.5
p.E28E
c.84G>A
1 paper
NM_016143.5
p.L27H
c.80T>A
1 paper
NM_016143.5
p.F25_F26delFs
c.75_76delAG
1 paper
NM_016143.5
p.R22R
c.66G>C
1 paper
NM_016143.5
p.V15A
c.44T>C
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