Varaico: Literature-Extracted Genetic Variants

Gene:NSFL1C
Variant:p.K112E

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.K112E
c.334A>G
Surrounding Variants
1 paper
NM_016143.5
p.P115L
c.344C>T
1 paper
NM_016143.5
p.P115P
c.345C>T
1 paper
NM_016143.5
p.L118Fs
c.354delinsAAFs
1 paper
NM_016143.5
p.L118delins
c.353_354delinsAA
1 paper
NM_016143.5
p.V119L
c.355G>T
2 papers
NM_016143.5
p.Q104E
c.310C>G
1 paper
NM_016143.5
p.D121N
c.361G>A
1 paper
NM_016143.5
p.S99L
c.296C>T
1 paper
NM_016143.5
p.G97G
c.291G>A
1 paper
NM_016143.5
p.A126A
c.378C>A
1 paper
NM_016143.5
p.G97R
c.289G>C
1 paper
NM_016143.5
p.G97R
c.289G>A
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