Varaico: Literature-Extracted Genetic Variants

LSAMP

38 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprot...

Pfam Domains

I-setaa 32–128UCSCImmunoglobulin I-set domain

Ig_3aa 131–201UCSCImmunoglobulin domain

Ig_3aa 218–294UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

limbic system associated membrane protein

HGNC Alias Symbol

IGLON3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002338.5

p.D76D

c.228C>T

Surrounding Variants

1 paper

NM_002338.5

p.D81V

c.242A>T

1 paper

NM_002338.5

p.E85Q

c.253G>C

1 paper

NM_002338.5

p.E85K

c.253G>A

1 paper

NM_002338.5

p.R89C

c.265C>T

1 paper

NM_002338.5

p.W64G

c.190T>G

2 papers

NM_002338.5

p.R97Q

c.290G>A

1 paper

NM_002338.5

p.E106Q

c.316G>C

1 paper

NM_002338.5

p.G107R

c.319G>C

1 paper

NM_002338.5

p.Q114K

c.340C>A

1 paper

NM_002338.5

p.Q114L

c.341A>T

1 paper

NM_002338.5

p.E118*

c.352G>T

1 paper

NM_002338.5

p.V124I

c.370G>A