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

1 paper

NM_001278116.2

p.V774V

c.2322G>A

Surrounding Variants

3 papers

NM_001278116.2

p.D770delFs

c.2310delG

1 paper

NM_001278116.2

p.D770fs

c.2308_2309fs

3 papers

NM_001278116.2

p.D770N

c.2308G>A

1 paper

NM_001278116.2

p.S769S

c.2307C>T

9 papers

NM_001278116.2

p.V768F

c.2302G>T

11 papers

NM_001278116.2

p.V768I

c.2302G>A

14 papers

NM_001278116.2

p.Y784C

c.2351A>G

1 paper

NM_001278116.2

p.I786N

c.2357T>A

1 paper

NM_001278116.2

p.T778_E785del8

c.2332_2354del24

3 papers

NM_001278116.2

p.V788F

c.2362G>T

3 papers

NM_001278116.2

p.Q789*

c.2365C>T

2 papers

NM_001278116.2

p.R760*

c.2278C>T