Varaico: Literature-Extracted Genetic Variants

Gene:GLMN
Variant:p.C72delFs

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
1 paper
NM_053274.3
p.C72delFs
c.216delG
Surrounding Variants
1 paper
NM_053274.3
p.L73I
c.217C>A
1 paper
NM_053274.3
p.E79*
c.235G>T
1 paper
NM_053274.3
p.L65R
c.194T>G
1 paper
NM_053274.3
p.N64T
c.191A>C
1 paper
NM_053274.3
p.G62V
c.185G>T
2 papers
NM_053274.3
p.V85I
c.253G>A
1 paper
NM_053274.3
p.K84delFs
c.251_252delTT
1 paper
NM_053274.3
p.N60D
c.178A>G
1 paper
NM_053274.3
p.F87_L88delFs
c.261_262delAA
1 paper
NM_053274.3
p.I89F
c.265A>T
1 paper
NM_053274.3
p.V56I
c.166G>A
4 papers
NM_053274.3
p.D91N
c.271G>A
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