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.S747R

c.2241C>G

Surrounding Variants

1 paper

NM_001389.5

p.S747R

c.2241C>A

1 paper

NM_001389.5

p.S747R

c.2239A>C

1 paper

NM_001389.5

p.N748fs

c.2242_2243fs

1 paper

NM_001389.5

p.Q744H

c.2232A>T

1 paper

NM_001389.5

p.Q744H

c.2232A>C

1 paper

NM_001389.5

p.R742Q

c.2225G>A

1 paper

NM_001389.5

p.V756A

c.2267T>C

1 paper

NM_001389.5

p.Q735*

c.2203C>T

1 paper

NM_001389.5

p.G762G

c.2286C>G

1 paper

NM_001389.5

p.P732L

c.2195C>T

1 paper

NM_001389.5

p.Y764F

c.2291A>T

1 paper

NM_001389.5

p.Y764C

c.2291A>G