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.T328T

c.984C>T

Surrounding Variants

1 paper

NM_001278116.2

p.T328S

c.983C>G

1 paper

NM_001278116.2

p.V329A

c.986T>C

1 paper

NM_001278116.2

p.T328S

c.982A>T

1 paper

NM_001278116.2

p.A331Splc

c.991+1G>A

2 papers

NM_001278116.2

p.A331Splc

c.991+2T>C

1 paper

NM_001278116.2

p.A324_Y325delFs

c.972_973delAC

1 paper

NM_001278116.2

p.G319fs

c.955_956fs

5 papers

NM_001278116.2

p.G319delFs

c.955delC

1 paper

NM_001278116.2

p.L318Q

c.953T>A

5 papers

NM_001278116.2

p.L313P

c.938T>C

3 papers

NM_001278116.2

p.C312Y

c.935G>A

3 papers

NM_001278116.2

p.C312R

c.934T>C