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

1–12 of 252 variants

8 papers

NM_006614.4

p.L17F

c.49C>T

4 papers

NM_006614.4

p.I1050V

c.3148A>G

3 papers

NM_006614.4

p.Y52C

c.155A>G

3 papers

NM_006614.4

p.T303A

c.907A>G

3 papers

NM_006614.4

p.Q640R

c.1919A>G

2 papers

NM_006614.4

p.M1I

c.3G>T

2 papers

NM_006614.4

p.V12I

c.34G>A

2 papers

NM_006614.4

p.D50N

c.148G>A

2 papers

NM_006614.4

p.S101S

c.303T>A

2 papers

NM_006614.4

p.L115L

c.343C>T

2 papers

NM_006614.4

p.E170Splc

c.508+4A>G

2 papers

NM_006614.4

p.I214insFs

c.641_642insC