Varaico: Literature-Extracted Genetic Variants

Gene:ISM1
Variant:p.T267delFs

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
Selected Variant
1 paper
NM_080826.2
p.T267delFs
c.800delC
Surrounding Variants
1 paper
NM_080826.2
p.R269K
c.806G>A
2 papers
NM_080826.2
p.R258H
c.773G>A
1 paper
NM_080826.2
p.A247T
c.739G>A
1 paper
NM_080826.2
p.T241fs
c.721_722fs
1 paper
NM_080826.2
p.R240Q
c.719G>A
1 paper
NM_080826.2
p.R240delFs
c.720delG
1 paper
NM_080826.2
p.C229fs
c.685_686fs
1 paper
NM_080826.2
p.T294K
c.881C>A
1 paper
NM_080826.2
p.E298*
c.892G>T
1 paper
NM_080826.2
p.S305S
c.915C>T
1 paper
NM_080826.2
p.M316T
c.947T>C
1 paper
NM_080826.2
p.D318N
c.952G>A
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