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.T595P

c.1783A>C

Surrounding Variants

1 paper

NM_001278116.2

p.S594fs

c.1780_1781fs

3 papers

NM_001278116.2

p.S594delFs

c.1780delT

5 papers

NM_001278116.2

p.E596*

c.1786G>T

1 paper

NM_001278116.2

p.N588_T595del8

c.1762_1784del24

3 papers

NM_001278116.2

p.A593P

c.1777G>C

17 papers

NM_001278116.2

p.D598N

c.1792G>A

2 papers

NM_001278116.2

p.V600E

c.1799T>A

5 papers

NM_001278116.2

p.Y589H

c.1765T>C

1 paper

NM_001278116.2

p.D582_G587ins2

c.1744_1761dup18

5 papers

NM_001278116.2

p.G587R

c.1759G>C

5 papers

NM_001278116.2

p.Q586*

c.1756C>T

2 papers

NM_001278116.2

p.D585A

c.1754A>C