Varaico: Literature-Extracted Genetic Variants

Gene:ISM1
Variant:p.Y416H

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.Y416H
c.1246T>C
Surrounding Variants
1 paper
NM_080826.2
p.V418_D419delins
c.1254_1255delinsTC
1 paper
NM_080826.2
p.W430*
c.1289G>A
1 paper
NM_080826.2
p.G399W
c.1195G>T
1 paper
NM_080826.2
p.G442R
c.1324G>A
1 paper
NM_080826.2
p.G442R
c.1324G>C
1 paper
NM_080826.2
p.G388D
c.1163G>A
1 paper
NM_080826.2
p.L380P
c.1139T>C
1 paper
NM_080826.2
p.D453N
c.1357G>A
1 paper
NM_080826.2
p.G353R
c.1057G>A
1 paper
NM_080826.2
p.G353R
c.1057G>C
1 paper
NM_080826.2
p.D336N
c.1006G>A
1 paper
NM_080826.2
p.T334M
c.1001C>T
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