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

3 papers

NM_001278116.2

p.D516N

c.1546G>A

Surrounding Variants

2 papers

NM_001278116.2

p.D516Y

c.1546G>T

1 paper

NM_001278116.2

p.D516Splc

c.1546+1G>T

1 paper

NM_001278116.2

p.D516Splc

c.1546+1G>A

3 papers

NM_000425.5

p.D516Splc

c.1546+2T>C

1 paper

NM_001278116.2

p.D516Splc

c.1546+2T>A

1 paper

NM_001278116.2

p.A510V

c.1529C>T

1 paper

NM_001278116.2

p.M509R

c.1526T>G

3 papers

NM_001278116.2

p.C497Y

c.1490G>A

1 paper

NM_001278116.2

p.Q488R

c.1463A>G

1 paper

NM_001278116.2

p.D486N

c.1456G>A

9 papers

NM_001278116.2

p.R485*

c.1453C>T

7 papers

NM_001278116.2

p.L482P

c.1445T>C