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.T232Splc

c.694+11G>A

Surrounding Variants

1 paper

NM_001278116.2

p.T232Splc

c.694+5G>A

1 paper

NM_001278116.2

p.T232insFs

c.694_695insT

1 paper

NM_001278116.2

p.K230*

c.688A>T

2 papers

NM_001278116.2

p.P224delFs

c.670delG

1 paper

NM_001278116.2

p.P224S

c.670C>T

3 papers

NM_001278116.2

p.K222delFs

c.666delC

1 paper

NM_001278116.2

p.K222fs

c.664_665fs

1 paper

NM_001278116.2

p.K222delFs

c.665delT

1 paper

NM_001278116.2

p.Q221P

c.662A>C

1 paper

NM_001278116.2

p.I219_I220ins0

c.657_659dupCAT

8 papers

NM_001278116.2

p.I219T

c.656T>C

3 papers

NM_001278116.2

p.I219V

c.655A>G