Varaico: Literature-Extracted Genetic Variants

Gene:THAP11
Variant:p.E222K

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.E222K
c.664G>A
Surrounding Variants
1 paper
NM_020457.3
p.E222fs
c.664_665fs
1 paper
NM_020457.3
p.A221Fs
c.662delinsCAAAAAFs
1 paper
NM_020457.3
p.A220D
c.659C>A
1 paper
NM_020457.3
p.A220del1
c.658_660delGCT
1 paper
NM_020457.3
p.A206P
c.616G>C
1 paper
NM_020457.3
p.D189N
c.565G>A
1 paper
NM_020457.3
p.Q264*
c.790C>T
1 paper
NM_020457.3
p.P175A
c.523C>G
1 paper
NM_020457.3
p.L270M
c.808C>A
1 paper
NM_020457.3
p.V173G
c.518T>G
1 paper
NM_020457.3
p.Q161E
c.481C>G
1 paper
NM_020457.3
p.R283G
c.847C>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."