Varaico: Literature-Extracted Genetic Variants

Gene:GLMN
Variant:p.Y141insFs

GLMN

287 papers

RefSeq Summary

This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been...

Pfam Domains

Kinetochor_Ybp2aa 1–561UCSCUncharacterised protein family, YAP/Alf4/glomulin

Gene Aliases

HGNC Name

glomulin, FKBP associated protein

HGNC Previous Symbol

VMGLOM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_053274.3
p.Y141insFs
c.422dupA
Surrounding Variants
2 papers
NM_053274.3
p.Y141*
c.423T>G
2 papers
NM_053274.3
p.Y141*
c.423T>A
2 papers
NM_053274.3
p.Y141insFs
c.421_422insT
1 paper
NM_053274.3
p.I143T
c.428T>C
7 papers
NM_053274.3
p.A146T
c.436G>A
1 paper
NM_053274.3
p.H137R
c.410A>G
4 papers
NM_053274.3
p.V132Splc
c.395-1G>C
2 papers
NM_053274.3
p.V132Splc
c.395-1G>A
1 paper
NM_053274.3
p.N152S
c.455A>G
1 paper
NM_053274.3
p.L157P
c.470T>C
1 paper
NM_053274.3
p.Y161H
c.481T>C
10 papers
NM_053274.3
p.L157_Y161del5
c.469_482del15
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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."