Varaico: Literature-Extracted Genetic Variants

Gene:TTLL5
Variant:p.W32R

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
2 papers
NM_015072.5
p.W32R
c.94T>A
Surrounding Variants
1 paper
NM_015072.5
p.W32R
c.94T>C
2 papers
NM_015072.5
p.E25Splc
c.75-2A>G
1 paper
NM_015072.5
p.A46T
c.136G>A
1 paper
NM_015072.5
p.A48D
c.143C>A
1 paper
NM_015072.5
p.E11A
c.32A>C
1 paper
NM_015072.5
p.E10K
c.28G>A
1 paper
NM_015072.5
p.L9V
c.25C>G
1 paper
NM_015072.5
p.D8D
c.24C>T
1 paper
NM_015072.5
p.R7delins
c.19delinsAGAG
1 paper
NM_015072.5
p.V4V
c.12G>A
1 paper
NM_015072.5
p.M1Fs
c.1delinsTTFs
5 papers
NM_015072.5
p.M1Fs
c.1delinsAAFs
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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."