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.V341L

c.1021G>C

Surrounding Variants

1 paper

NM_006614.4

p.F331delFs

c.993delC

1 paper

NM_006614.4

p.R325H

c.974G>A

1 paper

NM_006614.4

p.S317S

c.951C>T

1 paper

NM_006614.4

p.E314Q

c.940G>C

1 paper

NM_006614.4

p.K312E

c.934A>G

3 papers

NM_006614.4

p.T303A

c.907A>G

1 paper

NM_006614.4

p.E302V

c.905A>T

1 paper

NM_006614.4

p.E302del1

c.904_905delGAA

1 paper

NM_006614.4

p.W290G

c.868T>G

1 paper

NM_006614.4

p.Q287H

c.861G>C

1 paper

NM_006614.4

p.P286fs

c.856_857fs

1 paper

NM_006614.4

p.T285insFs

c.854_855ins10