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.R298K

c.893G>A

Surrounding Variants

1 paper

NM_001389.5

p.E294*

c.880G>T

1 paper

NM_001389.5

p.K303R

c.908A>G

1 paper

NM_001389.5

p.V304L

c.910G>T

1 paper

NM_001389.5

p.I305K

c.914T>A

1 paper

NM_001389.5

p.R307C

c.919C>T

1 paper

NM_001389.5

p.L308P

c.923T>C

1 paper

NM_001389.5

p.S288L

c.863C>T

1 paper

NM_001389.5

p.L308fs

c.922_923fs

1 paper

NM_001389.5

p.L308delFs

c.923delA

1 paper

NM_001389.5

p.V310M

c.928G>A

2 papers

NM_001389.5

p.P285L

c.854C>T

1 paper

NM_001389.5

p.P285H

c.854C>A