Varaico: Literature-Extracted Genetic Variants

Gene:LGSN
Variant:p.R72K

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.R72K
c.215G>A
Surrounding Variants
1 paper
NM_016571.3
p.A79T
c.235G>A
1 paper
NM_016571.3
p.K82insFs
c.244_245insG
1 paper
NM_016571.3
p.N83insFs
c.247_248insC
1 paper
NM_016571.3
p.R84C
c.250C>T
1 paper
NM_016571.3
p.R89Q
c.266G>A
1 paper
NM_016571.3
p.K102M
c.305A>T
1 paper
NM_016571.3
p.L124F
c.370C>T
1 paper
NM_016571.3
p.E134insFs
c.401dupA
1 paper
NM_016571.3
p.C142Y
c.425G>A
1 paper
NM_016571.3
p.F143L
c.427T>C
1 paper
NM_016571.3
p.F143L
c.429T>G
1 paper
NM_016571.3
p.F143L
c.429T>A
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