Varaico: Literature-Extracted Genetic Variants

Gene:GLMN
Variant:p.C36insFs

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
4 papers
NM_053274.3
p.C36insFs
c.107_108insG
Surrounding Variants
9 papers
NM_053274.3
p.C36*
c.108C>A
1 paper
NM_053274.3
p.C36del1
c.106_108delGCA
2 papers
NM_053274.3
p.C36_I37del2
c.106_110del6
1 paper
NM_053274.3
p.L31_A32del2
c.91_95del6
1 paper
NM_053274.3
p.R35_G40del0
c.105_119del15
1 paper
NM_053274.3
p.E39_H41delins
c.116_122delinsC
1 paper
NM_053274.3
p.F29insFs
c.85dupT
1 paper
NM_053274.3
p.D43A
c.128A>C
1 paper
NM_053274.3
p.D43_Q44del1
c.129_131delTGG
1 paper
NM_053274.3
p.H41_L45del0
c.123_134del12
1 paper
NM_053274.3
p.H41_L46del0
c.121_138del18
1 paper
NM_053274.3
p.R35_L46del0
c.103_138del36
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