Varaico: Literature-Extracted Genetic Variants

Gene:TTL
Variant:p.M1L

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.M1L
c.1A>C
Surrounding Variants
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
1 paper
NM_153712.5
p.P35S
c.103C>T
1 paper
NM_153712.5
p.M40L
c.118A>C
1 paper
NM_153712.5
p.M40L
c.118A>T
3 papers
NM_153712.5
p.N45Y
c.133A>T
1 paper
NM_153712.5
p.R46G
c.136C>G
1 paper
NM_153712.5
p.L52R
c.155T>G
1 paper
NM_153712.5
p.H54N
c.160C>A
1 paper
NM_153712.5
p.Y64H
c.190T>C
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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."