Varaico: Literature-Extracted Genetic Variants

Gene:TLE5
Variant:p.L96L

TLE5

23 papers

RefSeq Summary

The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded prot...

Pfam Domains

TLE_Naa 18–132UCSCGroucho/TLE N-terminal Q-rich domain

Gene Aliases

HGNC Name

TLE family member 5, transcriptional modulator

HGNC Previous Symbol

AES

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001130.6
p.L96L
c.288C>T
Surrounding Variants
1 paper
NM_001130.6
p.E99E
c.297G>A
1 paper
NM_001130.6
p.Q78Q
c.234G>A
1 paper
NM_001130.6
p.E74E
c.222G>A
1 paper
NM_001130.6
p.Q102K
c.304C>A
1 paper
NM_001130.6
p.G106R
c.316G>A
1 paper
NM_001130.6
p.A111T
c.331G>A
1 paper
NM_001130.6
p.A111D
c.332C>A
1 paper
NM_001130.6
p.L169Q
c.506T>A
1 paper
NM_001130.6
p.H174Q
c.522C>A
1 paper
NM_001130.6
p.L175L
c.525C>A
1 paper
NM_001130.6
p.R28R
c.84C>A
1 paper
NM_001130.6
p.T22T
c.66C>A
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