Varaico: Literature-Extracted Genetic Variants

Gene:THAP11
Variant:p.D18V

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.D18V
c.53A>T
Surrounding Variants
1 paper
NM_020457.3
p.A30P
c.88G>C
1 paper
NM_020457.3
p.M1insFs
c.2dupT
1 paper
NM_020457.3
p.N39delFs
c.115_116delAA
1 paper
NM_020457.3
p.N39delFs
c.117delC
1 paper
NM_020457.3
p.N39_R42delFs
c.117_124del8
1 paper
NM_020457.3
p.S41delFs
c.122delC
1 paper
NM_020457.3
p.C48S
c.142T>A
1 paper
NM_020457.3
p.T56S
c.166A>T
6 papers
NM_020457.3
p.F80L
c.238T>C
6 papers
NM_020457.3
p.F80L
c.240C>A
6 papers
NM_020457.3
p.F80L
c.240C>G
1 paper
NM_020457.3
p.P81R
c.242C>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."