Varaico: Literature-Extracted Genetic Variants

Gene:SPART
Variant:p.F232L

SPART

144 papers

RefSeq Summary

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein loc...

Pfam Domains

Senescenceaa 425–618UCSCSenescence domain

Gene Aliases

HGNC Name

spartin

HGNC Previous Symbol

SPG20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015087.5
p.F232L
c.696T>G
Surrounding Variants
2 papers
NM_015087.5
p.F232fs
c.694_695fs
1 paper
NM_015087.5
p.F232L
c.696T>A
5 papers
NM_015087.5
p.F232delFs
c.696delA
1 paper
NM_015087.5
p.F232L
c.694T>C
1 paper
NM_015087.5
p.Q229*
c.685C>T
1 paper
NM_015087.5
p.Q229E
c.685C>G
1 paper
NM_015087.5
p.V239G
c.716T>G
1 paper
NM_015087.5
p.R249Q
c.746G>A
1 paper
NM_015087.5
p.L254L
c.760T>C
1 paper
NM_015087.5
p.P209P
c.627G>A
1 paper
NM_015087.5
p.N256S
c.767A>G
1 paper
NM_015087.5
p.D259N
c.775G>A
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