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

4 papers

NM_001278116.2

p.S807_G808delFs

c.2421_2422delCA

Surrounding Variants

1 paper

NM_001278116.2

p.G808fs

c.2422_2423fs

1 paper

NM_001278116.2

p.D810fs

c.2428_2429fs

2 papers

NM_001278116.2

p.D810_Y811delFs

c.2430_2431delAG

1 paper

NM_001278116.2

p.I804I

c.2412C>T

2 papers

NM_001278116.2

p.I804insFs

c.2410_2411insA

1 paper

NM_001278116.2

p.G797*

c.2389G>T

1 paper

NM_001278116.2

p.G795V

c.2384G>T

1 paper

NM_001278116.2

p.N792fs

c.2374_2375fs

2 papers

NM_001278116.2

p.N792Fs

c.2374delinsGGFs

1 paper

NM_001278116.2

p.V791I

c.2371G>A

3 papers

NM_001278116.2

p.Q789*

c.2365C>T

3 papers

NM_001278116.2

p.V788F

c.2362G>T