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

4 papers

NM_006614.4

p.I1050V

c.3148A>G

Surrounding Variants

1 paper

NM_006614.4

p.E1051Q

c.3151G>C

1 paper

NM_006614.4

p.I1035T

c.3104T>C

1 paper

NM_006614.4

p.T1081T

c.3243A>G

1 paper

NM_006614.4

p.G1097V

c.3290G>T

1 paper

NM_006614.4

p.W1098*

c.3293G>A

1 paper

NM_006614.4

p.W1098*

c.3294G>A

1 paper

NM_006614.4

p.A1105E

c.3314C>A

1 paper

NM_006614.4

p.A1105V

c.3314C>T

1 paper

NM_006614.4

p.L1111L

c.3331C>T

1 paper

NM_006614.4

p.K1120N

c.3360G>C

1 paper

NM_006614.4

p.K1120N

c.3360G>T

1 paper

NM_006614.4

p.R1123K

c.3368G>A