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

30 papers

NM_001278116.2

p.R184Q

c.551G>A

Surrounding Variants

1 paper

NM_001278116.2

p.R184R

c.552G>C

12 papers

NM_001278116.2

p.R184W

c.550C>T

3 papers

NM_001278116.2

p.R184G

c.550C>G

10 papers

NM_001278116.2

p.I179S

c.536T>G

3 papers

NM_001278116.2

p.I179N

c.536T>A

1 paper

NM_001278116.2

p.Q189H

c.567G>T

1 paper

NM_001278116.2

p.Q189H

c.567G>C

1 paper

NM_001278116.2

p.N190insFs

c.568_569insG

1 paper

NM_001278116.2

p.L193P

c.578T>C

4 papers

NM_001278116.2

p.K175Splc

c.524-1G>A

1 paper

NM_001278116.2

p.K175Splc

c.524-2A>G

2 papers

NM_001278116.2

p.K175Splc

c.524-2A>C