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.S171C

c.512C>G

Surrounding Variants

1 paper

NM_001389.5

p.R172insFs

c.514_515insA

1 paper

NM_001389.5

p.R172K

c.515G>A

1 paper

NM_001389.5

p.G170Splc

c.509-1G>A

2 papers

NM_001389.5

p.L174delFs

c.522delG

1 paper

NM_001389.5

p.R172_I175delFs

c.514_523del10

1 paper

NM_001389.5

p.T178M

c.533C>T

1 paper

NM_001389.5

p.I183V

c.547A>G

1 paper

NM_001389.5

p.I183_K184delFs

c.549_550delTA

1 paper

NM_001389.5

p.V186A

c.557T>C

3 papers

NM_001389.5

p.Q187delFs

c.561delC

1 paper

NM_001389.5

p.E189K

c.565G>A

1 paper

NM_001389.5

p.R196H

c.587G>A