Varaico: Literature-Extracted Genetic Variants

L1CAM

470 papers

RefSeq Summary

The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repe...

Pfam Domains

Ig_3aa 34–118UCSCImmunoglobulin domain

Ig_3aa 239–316UCSCImmunoglobulin domain

I-setaa 333–421UCSCImmunoglobulin I-set domain

I-setaa 428–514UCSCImmunoglobulin I-set domain

I-setaa 518–608UCSCImmunoglobulin I-set domain

fn3aa 617–707UCSCFibronectin type III domain

Gene Aliases

HGNC Name

L1 cell adhesion molecule

HGNC Previous Symbols

HSAS1; HSAS; MASA; MIC5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001278116.2

p.R739fs

c.2215_2216fs

Surrounding Variants

3 papers

NM_001278116.2

p.R739W

c.2215C>T

2 papers

NM_001278116.2

p.R739delFs

c.2215delG

1 paper

NM_001278116.2

p.L738R

c.2213T>G

1 paper

NM_001278116.2

p.P737P

c.2211G>A

9 papers

NM_001278116.2

p.M741T

c.2222T>C

2 papers

NM_001278116.2

p.K736_P737Splc

c.2209-2A>G

1 paper

NM_001278116.2

p.K736_P737Splc

c.2209-6C>T

3 papers

NM_001278116.2

p.Q747*

c.2239C>T

1 paper

NM_001278116.2

p.Q747delFs

c.2239delG

1 paper

NM_001278116.2

p.Q747fs

c.2239_2240fs

1 paper

NM_001278116.2

p.Y750insFs

c.2248dupT

1 paper

NM_001278116.2

p.Y750*

c.2250C>G