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

2 papers

NM_001389.5

p.K1389insFs

c.4165dupA

Surrounding Variants

1 paper

NM_001389.5

p.K1389fs

c.4165_4166fs

2 papers

NM_001389.5

p.T1390A

c.4168A>G

1 paper

NM_001389.5

p.K1389fs

c.4165_4166fs

1 paper

NM_001389.5

p.K1389Q

c.4165A>C

2 papers

NM_001389.5

p.S1388delFs

c.4164delG

1 paper

NM_001389.5

p.T1391_S1392insFs

c.4173_4174insA

6 papers

NM_001389.5

p.T1391insFs

c.4173dupG

1 paper

NM_001389.5

p.V1387F

c.4159G>T

3 papers

NM_001389.5

p.T1386insFs

c.4156_4157insA

1 paper

NM_001389.5

p.T1386delFs

c.4156delT

1 paper

NM_001389.5

p.R1384W

c.4150C>T

1 paper

NM_001389.5

p.P1383L

c.4148C>T