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

5 papers

NM_001278116.2

p.Q423*

c.1267C>T

Surrounding Variants

1 paper

NM_001278116.2

p.Q423Splc

c.1268-1G>A

2 papers

NM_001278116.2

p.Q423Splc

c.1268-2A>T

1 paper

NM_001278116.2

p.Q423Splc

c.1268-2A>G

1 paper

NM_001278116.2

p.A426V

c.1277C>T

7 papers

NM_001278116.2

p.A426D

c.1277C>A

1 paper

NM_001278116.2

p.L429delFs

c.1285delG

1 paper

NM_001278116.2

p.D432fs

c.1294_1295fs

2 papers

NM_001278116.2

p.D432_N433delFs

c.1296_1299del4

6 papers

NM_001278116.2

p.Q440*

c.1318C>T

3 papers

NM_001278116.2

p.G441fs

c.1321_1322fs

1 paper

NM_001278116.2

p.G441V

c.1322G>T

4 papers

NM_001278116.2

p.G441delFs

c.1322delC