Varaico: Literature-Extracted Genetic Variants

Gene:TTL
Variant:p.K326N

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.K326N
c.978G>T
Surrounding Variants
1 paper
NM_153712.5
p.K326N
c.978G>C
3 papers
NM_153712.5
p.E331Q
c.991G>C
1 paper
NM_153712.5
p.A335Fs
c.1003delinsGAFs
1 paper
NM_153712.5
p.G316S
c.946G>A
1 paper
NM_153712.5
p.Q340R
c.1019A>G
1 paper
NM_153712.5
p.P308S
c.922C>T
1 paper
NM_153712.5
p.T304A
c.910A>G
1 paper
NM_153712.5
p.P300L
c.899C>T
1 paper
NM_153712.5
p.R292Splc
c.876-1400T>C
1 paper
NM_153712.5
p.K341E
c.1021A>G
1 paper
NM_153712.5
p.C347R
c.1039T>C
1 paper
NM_153712.5
p.K376N
c.1128G>C
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