Varaico: Literature-Extracted Genetic Variants

Gene:TTLL5
Variant:p.S103A

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.S103A
c.307T>G
Surrounding Variants
1 paper
NM_015072.5
p.M99V
c.295A>G
2 papers
NM_015072.5
p.T94A
c.280A>G
1 paper
NM_015072.5
p.T94S
c.280A>T
1 paper
NM_015072.5
p.S92G
c.274A>G
1 paper
NM_015072.5
p.H90Y
c.268C>T
3 papers
NM_015072.5
p.Q117*
c.349C>T
1 paper
NM_015072.5
p.P123S
c.367C>T
2 papers
NM_015072.5
p.R124Splc
c.371+2T>C
1 paper
NM_015072.5
p.H87insFs
c.260_261dupAT
1 paper
NM_015072.5
p.L81V
c.241C>G
1 paper
NM_015072.5
p.R75_I80insFs
c.224_240dup17
1 paper
NM_015072.5
p.D73Y
c.217G>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."