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

2 papers

NM_001278116.2

p.E304K

c.910G>A

Surrounding Variants

2 papers

NM_001278116.2

p.E304*

c.910G>T

1 paper

NM_001278116.2

p.E305*

c.913G>T

2 papers

NM_001278116.2

p.E305K

c.913G>A

14 papers

NM_001278116.2

p.G308G

c.924C>T

20 papers

NM_001278116.2

p.E309K

c.925G>A

1 paper

NM_001278116.2

p.Q298H

c.894G>T

1 paper

NM_001278116.2

p.Q298H

c.894G>C

5 papers

NM_001278116.2

p.Q298*

c.892C>T

2 papers

NM_001278116.2

p.Y310C

c.929A>G

1 paper

NM_001278116.2

p.L297delFs

c.889delG

3 papers

NM_001278116.2

p.C312R

c.934T>C

3 papers

NM_001278116.2

p.C312Y

c.935G>A