Varaico: Literature-Extracted Genetic Variants

Gene:THAP5
Variant:p.R3C

THAP5

20 papers

Pfam Domains

THAPaa 5–84UCSCTHAP domain
THAPaa 5–84UCSCTHAP domain

Gene Aliases

HGNC Name

THAP domain containing 5

HGNC Alias Symbol

DKFZp313O1132

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130475.3
p.R3C
c.7C>T
Surrounding Variants
1 paper
NM_001130475.3
p.M1I
c.3G>A
1 paper
NM_001130475.3
p.C10W
c.30T>G
1 paper
NM_001130475.3
p.R13C
c.37C>T
1 paper
NM_001130475.3
p.P27Splc
c.81-9A>T
1 paper
NM_001130475.3
p.E34_R35delFs
c.102_105del4
1 paper
NM_001130475.3
p.L36L
c.108G>T
1 paper
NM_001130475.3
p.R45*
c.133C>T
1 paper
NM_001130475.3
p.K99fs
c.295_296fs
3 papers
NM_001130475.3
p.K99fs
c.295_296fs
2 papers
NM_001130475.3
p.K99delFs
c.297delT
1 paper
NM_001130475.3
p.K102_L105del4
c.304_314del12
1 paper
NM_001130475.3
p.P151S
c.451C>T
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