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

1–12 of 665 variants

6 papers

NM_001389.5

p.S218L

c.653C>T

6 papers

NM_001389.5

p.V1378Splc

c.4132+2T>A

6 papers

NM_001389.5

p.T1391insFs

c.4173dupG

5 papers

NM_001389.5

p.Y1246fs

c.3736_3737fs

5 papers

NM_001389.5

p.A1263insFs

c.3787dupG

4 papers

NM_001389.5

p.E243delFs

c.727_728delTC

4 papers

NM_001389.5

p.I786Splc

c.2356+2T>G

4 papers

NM_001389.5

p.L1152L

c.3454C>T

4 papers

NM_001389.5

p.G1411_Y1412delFs

c.4233_4236del4

4 papers

NM_001389.5

p.E1474*

c.4420G>T

4 papers

NM_001389.5

p.E1474*

c.4420G>T

4 papers

NM_001389.5

p.L1546L

c.4636C>T