Varaico: Literature-Extracted Genetic Variants

Gene:THAP11
Variant:p.E295K

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.E295K
c.883G>A
Surrounding Variants
1 paper
NM_020457.3
p.E298*
c.892G>T
1 paper
NM_020457.3
p.K299E
c.895A>G
1 paper
NM_020457.3
p.A304G
c.911C>G
1 paper
NM_020457.3
p.R283G
c.847C>G
1 paper
NM_020457.3
p.R309_K310ins12
c.925_929ins36
1 paper
NM_020457.3
p.L270M
c.808C>A
1 paper
NM_020457.3
p.Q264*
c.790C>T
1 paper
NM_020457.3
p.E222K
c.664G>A
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
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