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.R1255C

c.3763C>T

Surrounding Variants

1 paper

NM_001389.5

p.V1259I

c.3775G>A

1 paper

NM_001389.5

p.S1258_V1259del1

c.3773_3775delCGC

1 paper

NM_001389.5

p.N1250N

c.3750C>T

1 paper

NM_001389.5

p.V1261L

c.3781G>T

1 paper

NM_001389.5

p.V1261L

c.3781G>C

1 paper

NM_001389.5

p.V1261V

c.3783G>A

5 papers

NM_001389.5

p.A1263insFs

c.3787dupG

2 papers

NM_001389.5

p.Y1246fs

c.3736_3737fs

1 paper

NM_001389.5

p.Y1246C

c.3737A>G

3 papers

NM_001389.5

p.S1245insFs

c.3734dupC

3 papers

NM_001389.5

p.S1245delFs

c.3734delG

5 papers

NM_001389.5

p.Y1246fs

c.3736_3737fs