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.E660E

c.1980G>A

Surrounding Variants

1 paper

NM_006614.4

p.E664*

c.1990G>T

1 paper

NM_006614.4

p.E666V

c.1997A>T

2 papers

NM_006614.4

p.T679A

c.2035A>G

1 paper

NM_006614.4

p.P691S

c.2071C>T

1 paper

NM_006614.4

p.Q699R

c.2096A>G

1 paper

NM_006614.4

p.A704G

c.2111C>G

1 paper

NM_006614.4

p.P713H

c.2138C>A

1 paper

NM_006614.4

p.E660D

c.1980G>C

1 paper

NM_006614.4

p.E660D

c.1980G>T

1 paper

NM_006614.4

p.G651E

c.1952G>A

1 paper

NM_006614.4

p.A650D

c.1949C>A

1 paper

NM_006614.4

p.R642K

c.1925G>A