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

1 paper

NM_006614.4

p.G9*

c.25G>T

Surrounding Variants

1 paper

NM_006614.4

p.L10V

c.28C>G

1 paper

NM_006614.4

p.L10insFs

c.29_30insA

1 paper

NM_006614.4

p.G7*

c.19G>T

1 paper

NM_006614.4

p.L6I

c.16C>A

2 papers

NM_006614.4

p.V12I

c.34G>A

1 paper

NM_006614.4

p.L14_M15insT

c.40_44ins3

1 paper

NM_006614.4

p.L5insFs

c.14_15insT

1 paper

NM_006614.4

p.E2D

c.6G>C

1 paper

NM_006614.4

p.E2D

c.6G>T

1 paper

NM_006614.4

p.M15K

c.44T>A

1 paper

NM_006614.4

p.M1I

c.3G>A

1 paper

NM_006614.4

p.M1I

c.3G>C