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.C109R

c.325T>C

Surrounding Variants

1 paper

NM_006614.4

p.C109S

c.325T>A

1 paper

NM_006614.4

p.C109S

c.326G>C

1 paper

NM_006614.4

p.K114R

c.341A>G

2 papers

NM_006614.4

p.L115L

c.343C>T

2 papers

NM_006614.4

p.S101S

c.303T>A

1 paper

NM_006614.4

p.E97K

c.289G>A

1 paper

NM_006614.4

p.N96D

c.286A>G

1 paper

NM_006614.4

p.P95R

c.284C>G

1 paper

NM_006614.4

p.P95L

c.284C>T

1 paper

NM_006614.4

p.E124D

c.372A>C

1 paper

NM_006614.4

p.E124D

c.372A>T

1 paper

NM_006614.4

p.F125_I126insTG

c.373_377ins6