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.F1516L

c.4548T>G

Surrounding Variants

1 paper

NM_001389.5

p.F1516L

c.4548T>A

1 paper

NM_001389.5

p.F1516L

c.4546T>C

1 paper

NM_001389.5

p.V1520delFs

c.4560delA

1 paper

NM_001389.5

p.F1509F

c.4527C>T

1 paper

NM_001389.5

p.Q1525*

c.4573C>T

1 paper

NM_001389.5

p.I1506T

c.4517T>C

1 paper

NM_001389.5

p.G1503S

c.4507G>A

1 paper

NM_001389.5

p.G1502D

c.4505G>A

1 paper

NM_001389.5

p.G1502S

c.4504G>A

1 paper

NM_001389.5

p.D1537N

c.4609G>A

1 paper

NM_001389.5

p.E1540E

c.4620A>G

1 paper

NM_001389.5

p.V1492M

c.4474G>A