Varaico: Literature-Extracted Genetic Variants

Gene:LGSN
Variant:p.R190K

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.R190K
c.569G>A
Surrounding Variants
1 paper
NM_016571.3
p.R185M
c.554G>T
1 paper
NM_016571.3
p.D209N
c.625G>A
1 paper
NM_016571.3
p.C211insFs
c.631_632insC
1 paper
NM_016571.3
p.E217K
c.649G>A
1 paper
NM_016571.3
p.A162V
c.485C>T
1 paper
NM_016571.3
p.V158A
c.473T>C
1 paper
NM_016571.3
p.K222N
c.666G>T
1 paper
NM_016571.3
p.K222N
c.666G>C
1 paper
NM_016571.3
p.P227S
c.679C>T
1 paper
NM_016571.3
p.I147M
c.441A>G
1 paper
NM_016571.3
p.F143L
c.429T>G
1 paper
NM_016571.3
p.F143L
c.429T>A
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