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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPGS2

Variant:p.S7delFs

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr18:36828748 GA>G

NM_015476.4

p.S7delFs

c.19delA

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=7, hom=0)16 overlapping SVs

Surrounding Variants

1 paper

chr18:36818920 G>A

NM_015476.4

p.R47C

c.139C>T

SMI1_KNR4

Exome: 0.8% (AC=11697, hom=453)Genome: 0.8% (AC=1250, hom=70)12 overlapping SVs

1 paper

chr18:36818912 C>A

NM_015476.4

p.M49I

c.147G>T

SMI1_KNR4

exact variant not in gnomAD12 overlapping SVs

1 paper

chr18:36818912 C>G

NM_015476.4

p.M49I

c.147G>C

SMI1_KNR4

exact variant not in gnomAD12 overlapping SVs

1 paper

chr18:36818912 C>T

NM_015476.4

p.M49I

c.147G>A

SMI1_KNR4

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)12 overlapping SVs

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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."