Varaico: Literature-Extracted Genetic Variants

Gene:THUMPD1

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
1–12 of 25 variants
2 papers
NM_017736.5
p.Q236*
c.706C>T
1 paper
NM_017736.5
p.M1I
c.3G>T
1 paper
NM_017736.5
p.M1I
c.3G>C
1 paper
NM_017736.5
p.M1I
c.3G>A
1 paper
NM_017736.5
p.T8T
c.24T>A
1 paper
NM_017736.5
p.R27S
c.79C>A
1 paper
NM_017736.5
p.G45S
c.133G>A
1 paper
NM_017736.5
p.E91Q
c.271G>C
1 paper
NM_017736.5
p.P164A
c.490C>G
1 paper
NM_017736.5
p.P164T
c.490C>A
1 paper
NM_017736.5
p.H207fs
c.619_620fs
1 paper
NM_017736.5
p.H207delFs
c.620_621delAT
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."