Varaico: Literature-Extracted Genetic Variants

Gene:GLMN
Variant:p.W440*

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.W440*
c.1319G>A
Surrounding Variants
1 paper
NM_053274.3
p.W440R
c.1318T>C
1 paper
NM_053274.3
p.W440R
c.1318T>A
5 papers
NM_053274.3
p.W440*
c.1320G>A
4 papers
NM_053274.3
p.F441insFs
c.1323dupT
2 papers
NM_053274.3
p.T442fs
c.1324_1325fs
1 paper
NM_053274.3
p.T442fs
c.1324_1325fs
1 paper
NM_053274.3
p.G443*
c.1327G>T
1 paper
NM_053274.3
p.R436H
c.1307G>A
1 paper
NM_053274.3
p.R436C
c.1306C>T
1 paper
NM_053274.3
p.L450del1
c.1348_1349delAAG
1 paper
NM_053274.3
p.L452fs
c.1354_1355fs
5 papers
NM_053274.3
p.L452delFs
c.1355delA
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