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.Q298H

c.894G>T

Surrounding Variants

1 paper

NM_001278116.2

p.Q298H

c.894G>C

5 papers

NM_001278116.2

p.Q298*

c.892C>T

1 paper

NM_001278116.2

p.L297delFs

c.889delG

2 papers

NM_001278116.2

p.K295M

c.884A>T

2 papers

NM_001278116.2

p.E304*

c.910G>T

2 papers

NM_001278116.2

p.E304K

c.910G>A

1 paper

NM_001278116.2

p.E305*

c.913G>T

2 papers

NM_001278116.2

p.E305K

c.913G>A

1 paper

NM_001278116.2

p.R287_Q291del5

c.859_872del15

3 papers

NM_001278116.2

p.Q291*

c.871C>T

1 paper

NM_001278116.2

p.Q291E

c.871C>G

1 paper

NM_001278116.2

p.Y290*

c.870C>G