Varaico: Literature-Extracted Genetic Variants

Gene:TTL

TTL

77 papers

RefSeq Summary

TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. Af...

Pfam Domains

TTLaa 80–367UCSCTubulin-tyrosine ligase family

Gene Aliases

HGNC Name

tubulin tyrosine ligase

HGNC Alias Symbol

MGC46235

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
4 papers
NM_153712.5
p.A133T
c.397G>A
3 papers
NM_153712.5
p.N45Y
c.133A>T
3 papers
NM_153712.5
p.K106R
c.317A>G
3 papers
NM_153712.5
p.E331Q
c.991G>C
2 papers
NM_153712.5
p.R73H
c.218G>A
2 papers
NM_153712.5
p.S164L
c.491C>T
2 papers
NM_153712.5
p.G219S
c.655G>A
1 paper
NM_153712.5
p.M1L
c.1A>C
1 paper
NM_153712.5
p.M1L
c.1A>T
1 paper
NM_153712.5
p.M1_Y2insFs
c.3_4insA
1 paper
NM_153712.5
p.M1_Y2insFs
c.3_4insT
1 paper
NM_153712.5
p.Y14F
c.41A>T
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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."