Varaico: Literature-Extracted Genetic Variants

Gene:TTLL5
Variant:p.A575_E576del2

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.A575_E576del2
c.1723_1727del6
Surrounding Variants
1 paper
NM_015072.5
p.E582E
c.1746G>A
1 paper
NM_015072.5
p.D594fs
c.1780_1781fs
5 papers
NM_015072.5
p.D594fs
c.1780_1781fs
1 paper
NM_015072.5
p.D594G
c.1781A>G
5 papers
NM_015072.5
p.D594delFs
c.1782delT
1 paper
NM_015072.5
p.D597N
c.1789G>A
3 papers
NM_015072.5
p.W640*
c.1919G>A
3 papers
NM_015072.5
p.W640*
c.1920G>A
1 paper
NM_015072.5
p.N642D
c.1924A>G
1 paper
NM_015072.5
p.C647Y
c.1940G>A
2 papers
NM_015072.5
p.L655L
c.1963C>T
1 paper
NM_015072.5
p.L655R
c.1964T>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."