Varaico: Literature-Extracted Genetic Variants

Gene:ISM1
Variant:p.D177N

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.D177N
c.529G>A
Surrounding Variants
1 paper
NM_080826.2
p.L168F
c.504G>C
1 paper
NM_080826.2
p.L168F
c.504G>T
1 paper
NM_080826.2
p.D185D
c.555C>T
1 paper
NM_080826.2
p.L166L
c.498G>A
1 paper
NM_080826.2
p.L166fs
c.496_497fs
1 paper
NM_080826.2
p.L166delFs
c.497delT
1 paper
NM_080826.2
p.N188S
c.563A>G
1 paper
NM_080826.2
p.A160V
c.479C>T
2 papers
NM_080826.2
p.R159W
c.475C>T
1 paper
NM_080826.2
p.P201S
c.601C>T
1 paper
NM_080826.2
p.P145R
c.434C>G
1 paper
NM_080826.2
p.P145L
c.434C>T
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