Varaico: Literature-Extracted Genetic Variants

Gene:ISM2
Variant:p.P96R

ISM2

49 papers

RefSeq Summary

The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matri...

Pfam Domains

TSP_1aa 330–370UCSCThrombospondin type 1 domain
AMOPaa 400–540UCSCAMOP domain

Gene Aliases

HGNC Name

isthmin 2

HGNC Previous Symbol

THSD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199296.3
p.P96R
c.287C>G
Surrounding Variants
4 papers
NM_199296.3
p.A94T
c.280G>A
1 paper
NM_199296.3
p.N93N
c.279C>T
1 paper
NM_199296.3
p.M89L
c.265A>T
1 paper
NM_199296.3
p.M89L
c.265A>C
1 paper
NM_199296.3
p.L109L
c.327G>A
1 paper
NM_199296.3
p.P113L
c.338C>T
1 paper
NM_199296.3
p.P75L
c.224C>T
1 paper
NM_199296.3
p.S121I
c.362G>T
1 paper
NM_199296.3
p.T122I
c.365C>T
1 paper
NM_199296.3
p.R68T
c.203G>C
1 paper
NM_199296.3
p.L66I
c.196C>A
1 paper
NM_199296.3
p.T127N
c.380C>A
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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."