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

2 papers

NM_001278116.2

p.S1248A

c.3742T>G

Surrounding Variants

2 papers

NM_001278116.2

p.T1247A

c.3739A>G

1 paper

NM_001278116.2

p.N1251D

c.3751A>G

2 papers

NM_001278116.2

p.G1239E

c.3716G>A

2 papers

NM_001278116.2

p.*1258W

c.3773A>G

1 paper

NM_001278116.2

p.*1258insFs

c.3772dupT

1 paper

NM_001278116.2

p.*1258Y

c.3774G>C

1 paper

NM_001278116.2

p.K1233K

c.3699G>A

1 paper

NM_001278116.2

p.S1230G

c.3688A>G

1 paper

NM_001278116.2

p.Y1229F

c.3686A>T

21 papers

NM_001278116.2

p.Y1229H

c.3685T>C

1 paper

NM_001278116.2

p.Q1228Q

c.3684G>A

12 papers

NM_001278116.2

p.S1224L

c.3671C>T