Varaico: Literature-Extracted Genetic Variants

Gene:THUMPD1
Variant:p.N299K

THUMPD1

27 papers

Pfam Domains

THUMPaa 170–253UCSCTHUMP domain

Gene Aliases

HGNC Name

THUMP domain 1 NAT10 acetyltransferase adaptor

HGNC Alias Symbols

FLJ20274; Tan1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017736.5
p.N299K
c.897C>A
Surrounding Variants
1 paper
NM_017736.5
p.N299K
c.897C>G
1 paper
NM_017736.5
p.E311D
c.933G>T
1 paper
NM_017736.5
p.G282R
c.844G>C
1 paper
NM_017736.5
p.G282R
c.844G>A
1 paper
NM_017736.5
p.P271H
c.812C>A
1 paper
NM_017736.5
p.S339R
c.1015A>C
1 paper
NM_017736.5
p.S339R
c.1017T>G
1 paper
NM_017736.5
p.S339R
c.1017T>A
1 paper
NM_017736.5
p.L258_F259del1
c.774_776delAAC
1 paper
NM_017736.5
p.Q340K
c.1018C>A
1 paper
NM_017736.5
p.S347*
c.1040C>G
1 paper
NM_017736.5
p.S347*
c.1040C>A
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