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.L560F

c.1678C>T

Surrounding Variants

1 paper

NM_001278116.2

p.Q561*

c.1681C>T

13 papers

NM_001278116.2

p.R558*

c.1672C>T

1 paper

NM_001278116.2

p.G557S

c.1669G>A

1 paper

NM_001278116.2

p.D556E

c.1668C>G

1 paper

NM_001278116.2

p.D556fs

c.1666_1667fs

1 paper

NM_001278116.2

p.D556E

c.1668C>A

3 papers

NM_001278116.2

p.D556delFs

c.1666delC

1 paper

NM_001278116.2

p.S566fs

c.1696_1697fs

1 paper

NM_001278116.2

p.W553*

c.1659G>A

1 paper

NM_001278116.2

p.W553*

c.1658G>A

1 paper

NM_001278116.2

p.S550_T552del0

c.1649_1654del6

1 paper

NM_001278116.2

p.K568_Y569insG

c.1702_1706ins3