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.A285T

c.853G>A

Surrounding Variants

1 paper

NM_001278116.2

p.R287G

c.859C>G

2 papers

NM_001278116.2

p.G281_P282delFs

c.841_845del5

1 paper

NM_001278116.2

p.G281fs

c.841_842fs

1 paper

NM_001278116.2

p.G281D

c.842G>A

1 paper

NM_001278116.2

p.Y290*

c.870C>G

1 paper

NM_001278116.2

p.Y290*

c.870C>A

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.R278C

c.832C>T

1 paper

NM_001278116.2

p.R287_Q291del5

c.859_872del15

9 papers

NM_001278116.2

p.W276*

c.828G>A

8 papers

NM_001278116.2

p.W276*

c.827G>A