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

20 papers

NM_001278116.2

p.S1194L

c.3581C>T

Surrounding Variants

1 paper

NM_001278116.2

p.S1194T

c.3580T>A

1 paper

NM_001278116.2

p.E1184_F1188del0

c.3551_3562del12

1 paper

NM_001278116.2

p.L1202_G1203del2

c.3604_3608del6

1 paper

NM_001278116.2

p.E1184V

c.3551A>T

1 paper

NM_001278116.2

p.N1183N

c.3549C>T

1 paper

NM_001278116.2

p.S1181N

c.3542G>A

1 paper

NM_001278116.2

p.A1209A

c.3627C>A

2 papers

NM_001278116.2

p.D1210H

c.3628G>C

1 paper

NM_001278116.2

p.Q1218H

c.3654G>T

1 paper

NM_001278116.2

p.Q1218H

c.3654G>C

12 papers

NM_001278116.2

p.S1224L

c.3671C>T

1 paper

NM_001278116.2

p.Q1228Q

c.3684G>A