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.V458D

c.1373T>A

Surrounding Variants

2 papers

NM_001278116.2

p.Q459*

c.1375C>T

3 papers

NM_001278116.2

p.W460Splc

c.1379+5G>A

1 paper

NM_001278116.2

p.A453V

c.1358C>T

1 paper

NM_001278116.2

p.F451_G452delFs

c.1353_1354delCG

15 papers

NM_001278116.2

p.G452R

c.1354G>C

15 papers

NM_001278116.2

p.G452R

c.1354G>A

2 papers

NM_001278116.2

p.L447_F451delFs

c.1340_1353del14

1 paper

NM_001278116.2

p.C448F

c.1343G>T

2 papers

NM_001278116.2

p.C448Y

c.1343G>A

2 papers

NM_001278116.2

p.V439_T443del5

c.1315_1328del15

1 paper

NM_001278116.2

p.T443fs

c.1327_1328fs

4 papers

NM_001278116.2

p.G441delFs

c.1322delC