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

3 papers

NM_006614.4

p.Y52C

c.155A>G

Surrounding Variants

1 paper

NM_006614.4

p.F53_Q54insG

c.157_161ins3

1 paper

NM_006614.4

p.F53Y

c.158T>A

1 paper

NM_006614.4

p.Q54*

c.160C>T

2 papers

NM_006614.4

p.D50N

c.148G>A

1 paper

NM_006614.4

p.C57Y

c.170G>A

1 paper

NM_006614.4

p.E58K

c.172G>A

1 paper

NM_006614.4

p.G61R

c.181G>A

1 paper

NM_006614.4

p.K42insFs

c.125_126insTG

1 paper

NM_006614.4

p.K42R

c.125A>G

1 paper

NM_006614.4

p.S41insFs

c.122_123insT

1 paper

NM_006614.4

p.Q40_S41ins2

c.120_121ins6

1 paper

NM_006614.4

p.Q40L

c.119A>T