Varaico: Literature-Extracted Genetic Variants

Gene:THAP11
Variant:p.Q116_Q117del1

THAP11

56 papers

RefSeq Summary

The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element tran...

Pfam Domains

THAPaa 6–80UCSCTHAP domain

Gene Aliases

HGNC Name

THAP domain containing 11

HGNC Alias Symbols

HRIHFB2206; CTG-B45d; CTG-B43a; RONIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020457.3
p.Q116_Q117del1
c.348_350delACA
Surrounding Variants
1 paper
NM_020457.3
p.Q122_Q131ins3
c.366_392dup27
1 paper
NM_020457.3
p.Q116Q
c.348A>G
2 papers
NM_020457.3
p.Q117del1
c.349_350delCAG
1 paper
NM_020457.3
p.Q117_Q124del0
c.349_372del24
2 papers
NM_020457.3
p.Q115_Q116del0
c.343_348del6
1 paper
NM_020457.3
p.Q119Q
c.357G>A
1 paper
NM_020457.3
p.Q120ins1
c.359_360insACA
1 paper
NM_020457.3
p.Q111*
c.331C>T
1 paper
NM_020457.3
p.Q110ins1
c.329_330insACA
1 paper
NM_020457.3
p.Q122del1
c.364_365delCAA
1 paper
NM_020457.3
p.Q122Q
c.366A>G
9 papers
NM_020457.3
p.Q132del1
c.394_395delCAG
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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."