Varaico: Literature-Extracted Genetic Variants

Gene:IST1
Variant:p.L15L

IST1

44 papers

RefSeq Summary

This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that w...

Gene Aliases

HGNC Name

IST1 factor associated with ESCRT-III

HGNC Previous Symbol

KIAA0174

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001270975.2
p.L15L
c.43T>C
Surrounding Variants
1 paper
NM_001270975.2
p.A8T
c.22G>A
1 paper
NM_001270975.2
p.K28delFs
c.82_83delAA
1 paper
NM_001270975.2
p.M1V
c.1A>G
1 paper
NM_001270975.2
p.E31K
c.91G>A
1 paper
NM_001270975.2
p.A36S
c.106G>T
1 paper
NM_001270975.2
p.E39A
c.116A>C
1 paper
NM_001270975.2
p.Y43D
c.127T>G
1 paper
NM_001270975.2
p.D63A
c.188A>C
1 paper
NM_001270975.2
p.Y64D
c.190T>G
1 paper
NM_001270975.2
p.L65L
c.195C>T
1 paper
NM_001270975.2
p.V66V
c.198G>A
1 paper
NM_001270975.2
p.E67A
c.200A>C
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