Varaico: Literature-Extracted Genetic Variants

Gene:LGSN
Variant:p.L348H

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.L348H
c.1043T>A
Surrounding Variants
1 paper
NM_016571.3
p.L345S
c.1034T>C
1 paper
NM_016571.3
p.E335K
c.1003G>A
2 papers
NM_016571.3
p.R366*
c.1096C>T
1 paper
NM_016571.3
p.C329F
c.986G>T
1 paper
NM_016571.3
p.R368S
c.1102C>A
1 paper
NM_016571.3
p.N326S
c.977A>G
1 paper
NM_016571.3
p.D320V
c.959A>T
1 paper
NM_016571.3
p.G385E
c.1154G>A
1 paper
NM_016571.3
p.Y386N
c.1156T>A
1 paper
NM_016571.3
p.I395M
c.1185C>G
1 paper
NM_016571.3
p.A300V
c.899C>T
1 paper
NM_016571.3
p.G402A
c.1205G>C
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