Varaico: Literature-Extracted Genetic Variants

Gene:TTLL5

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
1–12 of 237 variants
10 papers
NM_015072.5
p.E543K
c.1627G>A
7 papers
NM_015072.5
p.E529_S530delFs
c.1586_1589del4
7 papers
NM_015072.5
p.E543*
c.1627G>T
7 papers
NM_015072.5
p.W1118*
c.3353G>A
7 papers
NM_015072.5
p.W1118*
c.3354G>A
6 papers
NM_015072.5
p.L134fs
c.400_401fs
6 papers
NM_015072.5
p.E529fs
c.1585_1586fs
6 papers
NM_015072.5
p.T1059_N1060delFs
c.3177_3180del4
5 papers
NM_015072.5
p.M1Fs
c.1delinsAAFs
5 papers
NM_015072.5
p.R71*
c.211C>T
5 papers
NM_015072.5
p.L134delFs
c.401delT
5 papers
NM_015072.5
p.A149V
c.446C>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."