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

1–12 of 61 variants

3 papers

NM_002338.5

p.K225E

c.673A>G

2 papers

NM_002338.5

p.D76D

c.228C>T

2 papers

NM_002338.5

p.R97Q

c.290G>A

2 papers

NM_002338.5

p.S336R

c.1006A>C

2 papers

NM_002338.5

p.S336R

c.1008C>G

2 papers

NM_002338.5

p.S336R

c.1008C>A

1 paper

NM_002338.5

p.M1insFs

c.1dupA

1 paper

NM_002338.5

p.M1K

c.2T>A

1 paper

NM_002338.5

p.M1delFs

c.1delT

1 paper

NM_002338.5

p.M1insFs

c.2dupT

1 paper

NM_002338.5

p.M1insFs

c.1_2dupAT

1 paper

NM_002338.5

p.M1delFs

c.1_2delAT