Varaico: Literature-Extracted Genetic Variants

Gene:NSFL1C
Variant:p.Q230*

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.Q230*
c.688C>T
Surrounding Variants
1 paper
NM_016143.5
p.D234Y
c.700G>T
1 paper
NM_016143.5
p.R239Q
c.716G>A
1 paper
NM_016143.5
p.V244M
c.730G>A
1 paper
NM_016143.5
p.K245_F250del0
c.734_748del15
1 paper
NM_016143.5
p.K251T
c.752A>C
3 papers
NM_016143.5
p.F253S
c.758T>C
1 paper
NM_016143.5
p.E256K
c.766G>A
1 paper
NM_016143.5
p.G257V
c.770G>T
2 papers
NM_016143.5
p.G216Splc
c.647+5G>C
1 paper
NM_016143.5
p.R214C
c.640C>T
1 paper
NM_016143.5
p.S212delFs
c.636delA
1 paper
NM_016143.5
p.F209L
c.625T>C
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