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.G239R

c.715G>A

Surrounding Variants

1 paper

NM_001389.5

p.G239R

c.715G>C

2 papers

NM_001389.5

p.R234H

c.701G>A

1 paper

NM_001389.5

p.R234C

c.700C>T

4 papers

NM_001389.5

p.E243delFs

c.727_728delTC

1 paper

NM_001389.5

p.H233delFs

c.698delT

3 papers

NM_001389.5

p.D232E

c.696C>G

3 papers

NM_001389.5

p.D232E

c.696C>A

1 paper

NM_001389.5

p.P245P

c.735T>G

1 paper

NM_001389.5

p.F231insFs

c.693dupT

1 paper

NM_001389.5

p.G230W

c.688G>T

1 paper

NM_001389.5

p.L249L

c.747C>T

1 paper

NM_001389.5

p.S226S

c.678C>T