Varaico: Literature-Extracted Genetic Variants

Gene:GLMN
Variant:p.L282fs

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
2 papers
NM_053274.3
p.L282fs
c.844_845fs
Surrounding Variants
2 papers
NM_053274.3
p.L282*
c.845T>G
4 papers
NM_053274.3
p.L282_A283delFs
c.844_847del4
1 paper
NM_053274.3
p.M286V
c.856A>G
1 paper
NM_053274.3
p.E278K
c.832G>A
1 paper
NM_053274.3
p.A290delFs
c.868delC
1 paper
NM_053274.3
p.L292V
c.874C>G
1 paper
NM_053274.3
p.L292P
c.875T>C
1 paper
NM_053274.3
p.G297S
c.889G>A
1 paper
NM_053274.3
p.N261_H262del2
c.781_785del6
1 paper
NM_053274.3
p.P304A
c.910C>G
1 paper
NM_053274.3
p.M305V
c.913A>G
1 paper
NM_053274.3
p.V306_L307insFs
c.918_919insA
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