Varaico: Literature-Extracted Genetic Variants

Gene:ISM2
Variant:p.R477H

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.R477H
c.1430G>A
Surrounding Variants
1 paper
NM_199296.3
p.S485N
c.1454G>A
2 papers
NM_199296.3
p.R499Q
c.1496G>A
1 paper
NM_199296.3
p.R454W
c.1360C>T
1 paper
NM_199296.3
p.F453V
c.1357T>G
1 paper
NM_199296.3
p.R451H
c.1352G>A
1 paper
NM_199296.3
p.R451C
c.1351C>T
1 paper
NM_199296.3
p.H522P
c.1565A>C
1 paper
NM_199296.3
p.R424Q
c.1271G>A
1 paper
NM_199296.3
p.L423M
c.1267C>A
1 paper
NM_199296.3
p.L415I
c.1243C>A
1 paper
NM_199296.3
p.A551G
c.1652C>G
1 paper
NM_199296.3
p.L562fs
c.1684_1685fs
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