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.R257C

c.769C>T

Surrounding Variants

1 paper

NM_001389.5

p.Y256delFs

c.767delT

1 paper

NM_001389.5

p.P254_D255del1

c.762_764delTCT

1 paper

NM_001389.5

p.D255G

c.764A>G

1 paper

NM_001389.5

p.D255N

c.763G>A

1 paper

NM_001389.5

p.M263T

c.788T>C

1 paper

NM_001389.5

p.L249L

c.747C>T

1 paper

NM_001389.5

p.L265P

c.794T>C

1 paper

NM_001389.5

p.P245P

c.735T>G

4 papers

NM_001389.5

p.E243delFs

c.727_728delTC

1 paper

NM_001389.5

p.V275L

c.823G>T

1 paper

NM_001389.5

p.V275L

c.823G>C

1 paper

NM_001389.5

p.G239R

c.715G>C