Varaico: Literature-Extracted Genetic Variants

Gene:GLMN
Variant:p.G246_F247insFs

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
6 papers
NM_053274.3
p.G246_F247insFs
c.738_739insT
Surrounding Variants
1 paper
NM_053274.3
p.L248fs
c.742_743fs
2 papers
NM_053274.3
p.L248*
c.743T>G
1 paper
NM_053274.3
p.L248*
c.743T>A
2 papers
NM_053274.3
p.L248fs
c.742_743fs
1 paper
NM_053274.3
p.I251_G252del2
c.751_755del6
1 paper
NM_053274.3
p.P254R
c.761C>G
1 paper
NM_053274.3
p.P256_K257insFs
c.768_769insAG
1 paper
NM_053274.3
p.N261_H262del2
c.781_785del6
1 paper
NM_053274.3
p.E278K
c.832G>A
2 papers
NM_053274.3
p.L282*
c.845T>G
2 papers
NM_053274.3
p.L282fs
c.844_845fs
4 papers
NM_053274.3
p.L282_A283delFs
c.844_847del4
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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."