Varaico: Literature-Extracted Genetic Variants

Gene:GLMN

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
1–12 of 238 variants
13 papers
NM_053274.3
p.K53_N54delFs
c.157_161del5
10 papers
NM_053274.3
p.L157_Y161del5
c.469_482del15
9 papers
NM_053274.3
p.C36*
c.108C>A
7 papers
NM_053274.3
p.A146T
c.436G>A
6 papers
NM_053274.3
p.G246_F247insFs
c.738_739insT
6 papers
NM_053274.3
p.W440*
c.1319G>A
5 papers
NM_053274.3
p.K185_P186Fs
c.554_558delinsGFs
5 papers
NM_053274.3
p.W440*
c.1320G>A
5 papers
NM_053274.3
p.L452delFs
c.1355delA
4 papers
NM_053274.3
p.C36insFs
c.107_108insG
4 papers
NM_053274.3
p.D91N
c.271G>A
4 papers
NM_053274.3
p.V132Splc
c.395-1G>C
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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."