Varaico: Literature-Extracted Genetic Variants

Gene:TTL
Variant:p.G219S

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
2 papers
NM_153712.5
p.G219S
c.655G>A
Surrounding Variants
1 paper
NM_153712.5
p.G219D
c.656G>A
1 paper
NM_153712.5
p.H209Y
c.625C>T
1 paper
NM_153712.5
p.D231A
c.692A>C
1 paper
NM_153712.5
p.N242S
c.725A>G
1 paper
NM_153712.5
p.E257A
c.770A>C
1 paper
NM_153712.5
p.K265Q
c.793A>C
1 paper
NM_153712.5
p.Y270insFs
c.810dupC
1 paper
NM_153712.5
p.I201I
c.603C>T
1 paper
NM_153712.5
p.I201T
c.602T>C
1 paper
NM_153712.5
p.D200A
c.599A>C
2 papers
NM_153712.5
p.S164L
c.491C>T
1 paper
NM_153712.5
p.S164A
c.490T>G
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