Varaico: Literature-Extracted Genetic Variants

Gene:TTLL5
Variant:p.L134delFs

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
5 papers
NM_015072.5
p.L134delFs
c.401delT
Surrounding Variants
6 papers
NM_015072.5
p.L134fs
c.400_401fs
1 paper
NM_015072.5
p.R130Q
c.389G>A
1 paper
NM_015072.5
p.T144I
c.431C>T
5 papers
NM_015072.5
p.A149V
c.446C>T
1 paper
NM_015072.5
p.Q155E
c.463C>G
1 paper
NM_015072.5
p.Q155H
c.465G>C
1 paper
NM_015072.5
p.Q155H
c.465G>T
1 paper
NM_015072.5
p.A164A
c.492G>C
2 papers
NM_015072.5
p.R124Splc
c.371+2T>C
1 paper
NM_015072.5
p.P123S
c.367C>T
3 papers
NM_015072.5
p.Q117*
c.349C>T
1 paper
NM_015072.5
p.S103A
c.307T>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."