Varaico: Literature-Extracted Genetic Variants

Gene:ISM1

ISM1

43 papers

Pfam Domains

TSP_1aa 221–261UCSCThrombospondin type 1 domain
AMOPaa 293–435UCSCAMOP domain

Gene Aliases

HGNC Name

isthmin 1

HGNC Previous Symbol

C20orf82

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
2 papers
NM_080826.2
p.R159W
c.475C>T
2 papers
NM_080826.2
p.R258H
c.773G>A
1 paper
NM_080826.2
p.A5P
c.13G>C
1 paper
NM_080826.2
p.S27P
c.79T>C
1 paper
NM_080826.2
p.H71Y
c.211C>T
1 paper
NM_080826.2
p.P80fs
c.238_239fs
1 paper
NM_080826.2
p.S94*
c.281C>A
1 paper
NM_080826.2
p.S94*
c.281C>G
1 paper
NM_080826.2
p.R97T
c.290G>C
1 paper
NM_080826.2
p.L107_P108del1
c.321_323delACC
1 paper
NM_080826.2
p.P145R
c.434C>G
1 paper
NM_080826.2
p.P145L
c.434C>T
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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."