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.Y750insFs

c.2248dupT

Surrounding Variants

1 paper

NM_001278116.2

p.Y750*

c.2250C>G

1 paper

NM_001278116.2

p.Y750*

c.2250C>A

4 papers

NM_001278116.2

p.R751P

c.2252G>C

16 papers

NM_001278116.2

p.V752M

c.2254G>A

1 paper

NM_001278116.2

p.Q747fs

c.2239_2240fs

1 paper

NM_001278116.2

p.Q747delFs

c.2239delG

3 papers

NM_001278116.2

p.Q747*

c.2239C>T

3 papers

NM_001278116.2

p.W754R

c.2260T>C

3 papers

NM_001278116.2

p.W754R

c.2260T>A

5 papers

NM_001278116.2

p.W754*

c.2261G>A

5 papers

NM_001278116.2

p.W754*

c.2262G>A

1 paper

NM_001278116.2

p.P756L

c.2267C>T