Varaico: Literature-Extracted Genetic Variants

CHL1

287 papers

RefSeq Summary

The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The dele...

Pfam Domains

Ig_3aa 35–113UCSCImmunoglobulin domain

Ig_3aa 234–314UCSCImmunoglobulin domain

Ig_3aa 330–405UCSCImmunoglobulin domain

I-setaa 424–511UCSCImmunoglobulin I-set domain

igaa 523–602UCSCImmunoglobulin domain

fn3aa 613–704UCSCFibronectin type III domain

Gene Aliases

HGNC Name

cell adhesion molecule L1 like

HGNC Alias Symbols

CALL; L1CAM2; FLJ44930; MGC132578

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006614.4

p.I214insFs

c.641_642insC

Surrounding Variants

1 paper

NM_006614.4

p.L227I

c.679T>A

1 paper

NM_006614.4

p.K185R

c.554A>G

1 paper

NM_006614.4

p.D232E

c.696C>A

1 paper

NM_006614.4

p.D232E

c.696C>G

1 paper

NM_006614.4

p.S234C

c.700A>T

1 paper

NM_006614.4

p.S234N

c.701G>A

1 paper

NM_006614.4

p.S235delFs

c.704delC

1 paper

NM_006614.4

p.S241F

c.722C>T

2 papers

NM_006614.4

p.E170Splc

c.508+4A>G

1 paper

NM_006614.4

p.M167K

c.500T>A

1 paper

NM_006614.4

p.P160S

c.478C>T

1 paper

NM_006614.4

p.P156A

c.466C>G