Varaico: Literature-Extracted Genetic Variants

Gene:ESM1
Variant:p.Y104H

ESM1

16 papers

RefSeq Summary

This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may ...

Pfam Domains

IGFBPaa 28–83UCSCInsulin-like growth factor binding protein

Gene Aliases

HGNC Name

endothelial cell specific molecule 1

HGNC Previous Name

endothelial cell-specific molecule 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007036.5
p.Y104H
c.310T>C
Surrounding Variants
1 paper
NM_007036.5
p.T126M
c.377C>T
1 paper
NM_007036.5
p.Y137N
c.409T>A
1 paper
NM_007036.5
p.S138A
c.412T>G
1 paper
NM_007036.5
p.E151Splc
c.451+1G>T
1 paper
NM_007036.5
p.W180L
c.539G>T
1 paper
NM_007036.5
p.P183P
c.549A>C
1 paper
NM_007036.5
p.R184H
c.551G>A
1 paper
NM_007036.5
p.E89D
c.267G>T
1 paper
NM_007036.5
p.E89D
c.267G>C
1 paper
NM_007036.5
p.R45K
c.134G>A
1 paper
NM_007036.5
p.R42R
c.126C>G
1 paper
NM_007036.5
p.V12L
c.34G>T
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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."