Varaico: Literature-Extracted Genetic Variants

Gene:TPGS2

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
1–12 of 24 variants
2 papers
NM_015476.4
p.P136H
c.407C>A
1 paper
NM_015476.4
p.S7delFs
c.19delA
1 paper
NM_015476.4
p.R47C
c.139C>T
1 paper
NM_015476.4
p.M49I
c.147G>T
1 paper
NM_015476.4
p.M49I
c.147G>C
1 paper
NM_015476.4
p.M49I
c.147G>A
1 paper
NM_015476.4
p.C59F
c.176G>T
1 paper
NM_015476.4
p.F68Y
c.203T>A
1 paper
NM_015476.4
p.S80R
c.238A>C
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.L118V
c.352C>G
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