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.I1338L

c.4012A>C

Surrounding Variants

1 paper

NM_001389.5

p.F1339C

c.4016T>G

1 paper

NM_001389.5

p.S1340insFs

c.4019_4020insTA

3 papers

NM_001389.5

p.S1340_N1341insFs

c.4020_4021insTA

1 paper

NM_001389.5

p.S1340Fs

c.4020delinsTAAFs

1 paper

NM_001389.5

p.N1341fs

c.4021_4022fs

1 paper

NM_001389.5

p.N1341S

c.4022A>G

1 paper

NM_001389.5

p.N1341fs

c.4021_4022fs

2 papers

NM_001389.5

p.G1342R

c.4024G>C

2 papers

NM_001389.5

p.G1342R

c.4024G>A

1 paper

NM_001389.5

p.G1342E

c.4025G>A

1 paper

NM_001389.5

p.G1342insFs

c.4026dupA

1 paper

NM_001389.5

p.I1332F

c.3994A>T