Varaico: Literature-Extracted Genetic Variants

Gene:TTLL5
Variant:p.D73Y

TTLL5

192 papers

RefSeq Summary

This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid r...

Pfam Domains

TTLaa 110–406UCSCTubulin-tyrosine ligase family

Gene Aliases

HGNC Name

tubulin tyrosine ligase like 5

HGNC Previous Symbol

KIAA0998

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015072.5
p.D73Y
c.217G>T
Surrounding Variants
1 paper
NM_015072.5
p.T72M
c.215C>T
1 paper
NM_015072.5
p.R75_I80insFs
c.224_240dup17
5 papers
NM_015072.5
p.R71*
c.211C>T
1 paper
NM_015072.5
p.L81V
c.241C>G
1 paper
NM_015072.5
p.Y63delFs
c.189delT
1 paper
NM_015072.5
p.R62C
c.184C>T
2 papers
NM_015072.5
p.E61fs
c.181_182fs
1 paper
NM_015072.5
p.E61Splc
c.182-1G>T
1 paper
NM_015072.5
p.E61Splc
c.182-5T>C
1 paper
NM_015072.5
p.H87insFs
c.260_261dupAT
1 paper
NM_015072.5
p.H90Y
c.268C>T
1 paper
NM_015072.5
p.S92G
c.274A>G
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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."