Varaico: Literature-Extracted Genetic Variants

IGSF3

174 papers

RefSeq Summary

The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obst...

Pfam Domains

V-setaa 25–142UCSCImmunoglobulin V-set domain

Ig_IgSF3aa 147–278UCSCIgSF3-like, immunoglobulin-like domain

Ig_IgSF3aa 408–543UCSCIgSF3-like, immunoglobulin-like domain

V-setaa 684–804UCSCImmunoglobulin V-set domain

V-setaa 821–938UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

immunoglobulin superfamily member 3

HGNC Alias Symbols

V8; EWI-3; MGC117164

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

20 papers

NM_001007237.3

p.D254N

c.760G>A

Surrounding Variants

1 paper

NM_001007237.3

p.E247K

c.739G>A

1 paper

NM_001007237.3

p.R266H

c.797G>A

1 paper

NM_001007237.3

p.Q241*

c.721C>T

1 paper

NM_001007237.3

p.S267S

c.801C>T

1 paper

NM_001007237.3

p.T232A

c.694A>G

1 paper

NM_001007237.3

p.V219G

c.656T>G

1 paper

NM_001007237.3

p.G217W

c.649G>T

1 paper

NM_001007237.3

p.L216L

c.648G>T

2 papers

NM_001007237.3

p.D278Splc

c.832+47G>A

1 paper

NM_001007237.3

p.Q212H

c.636G>T

11 papers

NM_001007237.3

p.Q212R

c.635A>G

1 paper

NM_001007237.3

p.Q212delins

c.634_635delinsTG