Varaico: Literature-Extracted Genetic Variants

Gene:THAP11
Variant:p.F80L

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
6 papers
NM_020457.3
p.F80L
c.238T>C
Surrounding Variants
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
1 paper
NM_020457.3
p.Q110_Q116ins2
c.330_347dup18
1 paper
NM_020457.3
p.R103_Q104ins4
c.309_310ins12
1 paper
NM_020457.3
p.T56S
c.166A>T
1 paper
NM_020457.3
p.Q104R
c.311A>G
1 paper
NM_020457.3
p.Q104_Q105ins9
c.312_313ins27
1 paper
NM_020457.3
p.Q107_Q108ins1
c.321_322insCAG
1 paper
NM_020457.3
p.Q112del1
c.334_335delCAG
1 paper
NM_020457.3
p.Q110ins1
c.329_330insACA
1 paper
NM_020457.3
p.Q111*
c.331C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."