Varaico: Literature-Extracted Genetic Variants

Gene:THAP3
Variant:p.R214Q

THAP3

43 papers

Pfam Domains

THAPaa 5–82UCSCTHAP domain

Gene Aliases

HGNC Name

THAP domain containing 3

HGNC Previous Name

THAP domain containing, apoptosis associated protein 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195753.2
p.R214Q
c.641G>A
Surrounding Variants
2 papers
NM_001195753.2
p.R214*
c.640C>T
1 paper
NM_001195753.2
p.A208A
c.624C>G
1 paper
NM_001195753.2
p.L220F
c.658C>T
1 paper
NM_001195753.2
p.R221C
c.661C>T
1 paper
NM_001195753.2
p.R205C
c.613C>T
1 paper
NM_001195753.2
p.R203W
c.607C>T
4 papers
NM_001195753.2
p.H226R
c.677A>G
1 paper
NM_001195753.2
p.L202F
c.604C>T
7 papers
NM_001195753.2
p.Q227R
c.680A>G
1 paper
NM_001195753.2
p.D186fs
c.556_557fs
1 paper
NM_001195753.2
p.L185insFs
c.555dupA
1 paper
NM_001195753.2
p.D184_D186del0
c.552_557del6
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