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

14 papers

NM_001278116.2

p.Y194C

c.581A>G

Surrounding Variants

1 paper

NM_001278116.2

p.L193P

c.578T>C

1 paper

NM_001278116.2

p.N197N

c.591T>C

1 paper

NM_001278116.2

p.V198M

c.592G>A

1 paper

NM_001278116.2

p.N190insFs

c.568_569insG

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.M187_V198del0

c.559_594del36

1 paper

NM_001278116.2

p.A196_L199delFs

c.588_595del8

1 paper

NM_001278116.2

p.S201S

c.603C>T

9 papers

NM_001278116.2

p.D202Y

c.604G>T

8 papers

NM_001278116.2

p.D202N

c.604G>A

1 paper

NM_001278116.2

p.R184R

c.552G>C