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.Y203C

c.608A>G

Surrounding Variants

1 paper

NM_001389.5

p.Y203*

c.609C>G

1 paper

NM_001389.5

p.Y203*

c.609C>A

1 paper

NM_001389.5

p.R202Q

c.605G>A

1 paper

NM_001389.5

p.R202*

c.604C>T

1 paper

NM_001389.5

p.T204insFs

c.611dupC

1 paper

NM_001389.5

p.G205R

c.613G>C

1 paper

NM_001389.5

p.G205R

c.613G>A

1 paper

NM_001389.5

p.G205E

c.614G>A

1 paper

NM_001389.5

p.E206D

c.618G>T

1 paper

NM_001389.5

p.E206D

c.618G>C

1 paper

NM_001389.5

p.R200W

c.598C>T

3 papers

NM_001389.5

p.T199M

c.596C>T