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.A1351delFs

c.4051_4052delGC

Surrounding Variants

1 paper

NM_001389.5

p.A1351delFs

c.4052_4053delTG

1 paper

NM_001389.5

p.S1354T

c.4060T>A

2 papers

NM_001389.5

p.V1349M

c.4045G>A

1 paper

NM_001389.5

p.S1354S

c.4062C>T

1 paper

NM_001389.5

p.T1348M

c.4043C>T

1 paper

NM_001389.5

p.Y1356N

c.4066T>A

1 paper

NM_001389.5

p.R1347H

c.4040G>A

2 papers

NM_001389.5

p.R1347C

c.4039C>T

1 paper

NM_001389.5

p.Y1357C

c.4070A>G

1 paper

NM_001389.5

p.G1342insFs

c.4026dupA

1 paper

NM_001389.5

p.G1342E

c.4025G>A

2 papers

NM_001389.5

p.G1342R

c.4024G>C