Varaico: Literature-Extracted Genetic Variants

Gene:GLMN
Variant:p.D193A

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.D193A
c.578A>C
Surrounding Variants
1 paper
NM_053274.3
p.D193N
c.577G>A
1 paper
NM_053274.3
p.N194S
c.581A>G
1 paper
NM_053274.3
p.E196*
c.586G>T
1 paper
NM_053274.3
p.F187delFs
c.561delA
1 paper
NM_053274.3
p.P186delins
c.558delinsG
5 papers
NM_053274.3
p.K185_P186Fs
c.554_558delinsGFs
1 paper
NM_053274.3
p.E200K
c.598G>A
1 paper
NM_053274.3
p.K185fs
c.553_554fs
2 papers
NM_053274.3
p.K185delFs
c.554delT
1 paper
NM_053274.3
p.N201K
c.603T>A
2 papers
NM_053274.3
p.K185fs
c.553_554fs
1 paper
NM_053274.3
p.E202*
c.604G>T
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