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

4 papers

NM_001389.5

p.G1411_Y1412delFs

c.4233_4236del4

Surrounding Variants

1 paper

NM_001389.5

p.E1422G

c.4265A>G

2 papers

NM_001389.5

p.D1419_G1425delFs

c.4256_4274del19

1 paper

NM_001389.5

p.I1429V

c.4285A>G

1 paper

NM_001389.5

p.R1434C

c.4300C>T

1 paper

NM_001389.5

p.R1437C

c.4309C>T

2 papers

NM_001389.5

p.Y1447delFs

c.4341delA

1 paper

NM_001389.5

p.R1461H

c.4382G>A

1 paper

NM_001389.5

p.E1464K

c.4390G>A

1 paper

NM_001389.5

p.K1473N

c.4419A>T

1 paper

NM_001389.5

p.K1473K

c.4419A>G

1 paper

NM_001389.5

p.K1473N

c.4419A>C

4 papers

NM_001389.5

p.E1474*

c.4420G>T