Varaico: Literature-Extracted Genetic Variants

Gene:SZT2
Variant:p.E2824Q

SZT2

218 papers

RefSeq Summary

The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in ...

Gene Aliases

HGNC Name

SZT2 subunit of KICSTOR complex

HGNC Previous Symbols

C1orf84; KIAA0467

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015284.4
p.E2824Q
c.8470G>C
Surrounding Variants
1 paper
NM_001365999.1
p.P2880_E2881insFs
c.8640_8641insC
1 paper
NM_015284.4
p.R2820C
c.8458C>T
1 paper
NM_001365999.1
p.G2885ins13
c.8654_8655ins39
1 paper
NM_001365999.1
p.P2900S
c.8698C>T
1 paper
NM_001365999.1
p.R2904C
c.8710C>T
1 paper
NM_001365999.1
p.R2904P
c.8711G>C
1 paper
NM_001365999.1
p.F2916L
c.8748C>A
1 paper
NM_015284.4
p.Q2862*
c.8584C>T
5 papers
NM_015284.4
p.Y2866insFs
c.8596dupT
7 papers
NM_015284.4
p.Y2866fs
c.8596_8597fs
1 paper
NM_001365999.1
p.Q2925*
c.8773C>T
1 paper
NM_001365999.1
p.I2927T
c.8780T>C
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