Varaico: Literature-Extracted Genetic Variants

Gene:GLMN
Variant:p.K53_N54delFs

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
13 papers
NM_053274.3
p.K53_N54delFs
c.157_161del5
Surrounding Variants
2 papers
NM_053274.3
p.K53fs
c.157_158fs
1 paper
NM_053274.3
p.H41_K53del0
c.122_157del36
1 paper
NM_053274.3
p.K53*
c.157A>T
1 paper
NM_053274.3
p.E52*
c.154G>T
1 paper
NM_053274.3
p.L46_N51del0
c.138_152del15
1 paper
NM_053274.3
p.D43_I49del0
c.128_145del18
3 papers
NM_053274.3
p.I48M
c.144T>G
1 paper
NM_053274.3
p.E38_L46del0
c.112_138del27
1 paper
NM_053274.3
p.H41_L46del0
c.121_138del18
1 paper
NM_053274.3
p.R35_L46del0
c.103_138del36
1 paper
NM_053274.3
p.H41_L45del0
c.123_134del12
1 paper
NM_053274.3
p.D43_Q44del1
c.129_131delTGG
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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."