Varaico: Literature-Extracted Genetic Variants

Gene:LGSN
Variant:p.I497V

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.I497V
c.1489A>G
Surrounding Variants
1 paper
NM_016571.3
p.E500K
c.1498G>A
1 paper
NM_016571.3
p.E493Q
c.1477G>C
1 paper
NM_016571.3
p.M487I
c.1461G>T
1 paper
NM_016571.3
p.M487I
c.1461G>C
1 paper
NM_016571.3
p.M487I
c.1461G>A
1 paper
NM_016571.3
p.P452L
c.1355C>T
1 paper
NM_016571.3
p.P452S
c.1354C>T
1 paper
NM_016571.3
p.D442N
c.1324G>A
1 paper
NM_016571.3
p.A421_A422insFs
c.1263_1264insAT
1 paper
NM_016571.3
p.P416T
c.1246C>A
1 paper
NM_016571.3
p.G402A
c.1205G>C
1 paper
NM_016571.3
p.I395M
c.1185C>G
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