Varaico: Literature-Extracted Genetic Variants

Gene:LGSN
Variant:p.L285V

LGSN

52 papers

RefSeq Summary

This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine...

Pfam Domains

Gln-synt_Caa 181–507UCSCGlutamine synthetase, catalytic domain

Gene Aliases

HGNC Name

lengsin, lens protein with glutamine synthetase domain

HGNC Previous Symbol

GLULD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016571.3
p.L285V
c.853C>G
Surrounding Variants
2 papers
NM_016571.3
p.T287I
c.860C>T
1 paper
NM_016571.3
p.D280G
c.839A>G
1 paper
NM_016571.3
p.A293insFs
c.877_878insT
1 paper
NM_016571.3
p.P272delFs
c.814delG
1 paper
NM_016571.3
p.A300V
c.899C>T
1 paper
NM_016571.3
p.P263H
c.788C>A
1 paper
NM_016571.3
p.D320V
c.959A>T
1 paper
NM_016571.3
p.Y248insFs
c.742_743insTT
1 paper
NM_016571.3
p.L247W
c.740T>G
1 paper
NM_016571.3
p.D245Y
c.733G>T
1 paper
NM_016571.3
p.N326S
c.977A>G
1 paper
NM_016571.3
p.C329F
c.986G>T
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