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

1–12 of 698 variants

30 papers

NM_001278116.2

p.R184Q

c.551G>A

26 papers

NM_001278116.2

p.C264Y

c.791G>A

24 papers

NM_001278116.2

p.H210Q

c.630C>G

24 papers

NM_001278116.2

p.H210Q

c.630C>A

21 papers

NM_001278116.2

p.Y1229H

c.3685T>C

20 papers

NM_001278116.2

p.E309K

c.925G>A

20 papers

NM_001278116.2

p.S1194L

c.3581C>T

17 papers

NM_001278116.2

p.D598N

c.1792G>A

16 papers

NM_001278116.2

p.V752M

c.2254G>A

15 papers

NM_001278116.2

p.P240L

c.719C>T

15 papers

NM_001278116.2

p.G452R

c.1354G>C

15 papers

NM_001278116.2

p.G452R

c.1354G>A