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.L274V

c.820T>G

Surrounding Variants

1 paper

NM_006614.4

p.C278R

c.832T>C

2 papers

NM_006614.4

p.I268N

c.803T>A

1 paper

NM_006614.4

p.A280V

c.839C>T

1 paper

NM_006614.4

p.G282S

c.844G>A

1 paper

NM_006614.4

p.S264F

c.791C>T

1 paper

NM_006614.4

p.L283Splc

c.848+3G>A

1 paper

NM_006614.4

p.P257S

c.769C>T

1 paper

NM_006614.4

p.K250Q

c.748A>C

1 paper

NM_006614.4

p.S245P

c.733T>C

1 paper

NM_006614.4

p.S245A

c.733T>G

1 paper

NM_006614.4

p.A243Splc

c.728-17T>C

1 paper

NM_006614.4

p.A243Splc

c.728-25C>T