Varaico: Literature-Extracted Genetic Variants

Gene:TTL
Variant:p.K106Q

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
Selected Variant
1 paper
NM_153712.5
p.K106Q
c.316A>C
Surrounding Variants
3 papers
NM_153712.5
p.K106R
c.317A>G
1 paper
NM_153712.5
p.Y101F
c.302A>T
1 paper
NM_153712.5
p.N114D
c.340A>G
1 paper
NM_153712.5
p.W93R
c.277T>A
1 paper
NM_153712.5
p.W93R
c.277T>C
1 paper
NM_153712.5
p.I120V
c.358A>G
1 paper
NM_153712.5
p.S90_C91insFs
c.270_271dupCT
1 paper
NM_153712.5
p.S123S
c.369A>T
4 papers
NM_153712.5
p.A133T
c.397G>A
1 paper
NM_153712.5
p.R137T
c.410G>C
1 paper
NM_153712.5
p.E143*
c.427G>T
1 paper
NM_153712.5
p.N145N
c.435C>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."