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.S1149L

c.3446C>T

Surrounding Variants

1 paper

NM_001389.5

p.E1151D

c.3453G>T

1 paper

NM_001389.5

p.E1151D

c.3453G>C

4 papers

NM_001389.5

p.L1152L

c.3454C>T

1 paper

NM_001389.5

p.L1152V

c.3454C>G

1 paper

NM_001389.5

p.L1152L

c.3456G>A

1 paper

NM_001389.5

p.G1154R

c.3460G>C

1 paper

NM_001389.5

p.G1154R

c.3460G>A

2 papers

NM_001389.5

p.L1137L

c.3409C>T

2 papers

NM_001389.5

p.V1165V

c.3495G>C

1 paper

NM_001389.5

p.A1167insFs

c.3499dupG

1 paper

NM_001389.5

p.R1170S

c.3508C>A

1 paper

NM_001389.5

p.A1171T

c.3511G>A