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.D237G

c.710A>G

Surrounding Variants

2 papers

NM_001278116.2

p.R238insFs

c.712_713ins4

1 paper

NM_001278116.2

p.R238fs

c.712_713fs

15 papers

NM_001278116.2

p.P240L

c.719C>T

1 paper

NM_001278116.2

p.L242L

c.724C>T

1 paper

NM_001278116.2

p.T232Splc

c.695-2A>G

1 paper

NM_001278116.2

p.S250fs

c.748_749fs

2 papers

NM_001278116.2

p.S250delFs

c.749delC

1 paper

NM_001278116.2

p.H251Q

c.753C>G

1 paper

NM_001278116.2

p.H251Q

c.753C>A

3 papers

NM_001278116.2

p.A254D

c.761C>A

1 paper

NM_001278116.2

p.T232Splc

c.695-41G>A

3 papers

NM_001278116.2

p.Q258*

c.772C>T