Varaico: Literature-Extracted Genetic Variants

Gene:SZT2

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
1–12 of 369 variants
13 papers
NM_001365999.1
p.R25*
c.73C>T
11 papers
NM_001365999.1
p.S499I
c.1496G>T
11 papers
NM_001365999.1
p.Q698*
c.2092C>T
9 papers
NM_015284.4
p.F1401_Y1402del1
c.4202_4204delTCT
9 papers
NM_015284.4
p.R3235*
c.9703C>T
8 papers
NM_001365999.1
p.P446S
c.1336C>T
7 papers
NM_001365999.1
p.G977Splc
c.2929+1G>A
7 papers
NM_015284.4
p.T1170_E1171delFs
c.3509_3512del4
7 papers
NM_015284.4
p.R2185W
c.6553C>T
7 papers
NM_015284.4
p.R2435W
c.7303C>T
7 papers
NM_015284.4
p.S2721C
c.8162C>G
7 papers
NM_015284.4
p.Y2866fs
c.8596_8597fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."