Varaico: Literature-Extracted Genetic Variants

Gene:TPGS2
Variant:p.L118V

TPGS2

20 papers

RefSeq Summary

This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternativ...

Pfam Domains

SMI1_KNR4aa 44–194UCSCSMI1 / KNR4 family (SUKH-1)

Gene Aliases

HGNC Name

tubulin polyglutamylase complex subunit 2

HGNC Previous Symbol

C18orf10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015476.4
p.L118V
c.352C>G
Surrounding Variants
1 paper
NM_015476.4
p.S80R
c.240T>G
1 paper
NM_015476.4
p.S80R
c.240T>A
1 paper
NM_015476.4
p.S80R
c.238A>C
1 paper
NM_015476.4
p.F68Y
c.203T>A
1 paper
NM_015476.4
p.C59F
c.176G>T
1 paper
NM_015476.4
p.P133T
c.397C>A
2 papers
NM_015476.4
p.P136H
c.407C>A
1 paper
NM_015476.4
p.S142N
c.425G>A
1 paper
NM_015476.4
p.Q206Q
c.618A>G
1 paper
NM_015476.4
p.A208A
c.624C>T
1 paper
NM_015476.4
p.Q217*
c.649C>T
1 paper
NM_015476.4
p.K219_Q220Splc
c.657+89A>G
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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."