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

3 papers

NM_001278116.2

p.Y207*

c.621C>G

Surrounding Variants

3 papers

NM_001278116.2

p.Y207*

c.621C>A

2 papers

NM_001278116.2

p.Y207C

c.620A>G

1 paper

NM_001278116.2

p.D206E

c.618C>G

1 paper

NM_001278116.2

p.D206E

c.618C>A

1 paper

NM_001278116.2

p.D206N

c.616G>A

1 paper

NM_001278116.2

p.S205S

c.615A>C

1 paper

NM_001278116.2

p.S205delins

c.614_615delinsAG

3 papers

NM_001278116.2

p.S205*

c.614C>G

3 papers

NM_001278116.2

p.S205*

c.614C>A

24 papers

NM_001278116.2

p.H210Q

c.630C>G

24 papers

NM_001278116.2

p.H210Q

c.630C>A

1 paper

NM_001278116.2

p.H204Y

c.610C>T