Varaico: Literature-Extracted Genetic Variants

DSCAM

486 papers

RefSeq Summary

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for D...

Pfam Domains

I-setaa 225–310UCSCImmunoglobulin I-set domain

I-setaa 314–401UCSCImmunoglobulin I-set domain

Ig_3aa 406–488UCSCImmunoglobulin domain

I-setaa 504–595UCSCImmunoglobulin I-set domain

I-setaa 596–686UCSCImmunoglobulin I-set domain

Ig_3aa 689–770UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

DS cell adhesion molecule

HGNC Alias Symbols

CHD2-42; CHD2-52

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001389.5

p.L782H

c.2345T>A

Surrounding Variants

4 papers

NM_001389.5

p.I786Splc

c.2356+2T>G

1 paper

NM_001389.5

p.D775_V776delFs

c.2323_2327del5

1 paper

NM_001389.5

p.A774delFs

c.2322delT

2 papers

NM_001389.5

p.G773S

c.2317G>A

1 paper

NM_001389.5

p.D771N

c.2311G>A

1 paper

NM_001389.5

p.N770K

c.2310C>G

1 paper

NM_001389.5

p.N770K

c.2310C>A

1 paper

NM_001389.5

p.G762_Y764del3

c.2284_2291del9

1 paper

NM_001389.5

p.Y764F

c.2291A>T

1 paper

NM_001389.5

p.Y764C

c.2291A>G

1 paper

NM_001389.5

p.G762G

c.2286C>G

1 paper

NM_001389.5

p.V756A

c.2267T>C