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

13 papers

NM_001007237.3

p.W575*

c.1724G>A

Surrounding Variants

7 papers

NM_001007237.3

p.W575R

c.1723T>C

7 papers

NM_001007237.3

p.W575R

c.1723T>A

12 papers

NM_001007237.3

p.W575*

c.1725G>A

2 papers

NM_001007237.3

p.S579S

c.1737G>A

1 paper

NM_001007237.3

p.R583W

c.1747C>T

2 papers

NM_001007237.3

p.R583Q

c.1748G>A

1 paper

NM_001007237.3

p.C566Y

c.1697G>A

1 paper

NM_001007237.3

p.D560N

c.1678G>A

1 paper

NM_001007237.3

p.S559S

c.1677C>T

6 papers

NM_001007237.3

p.L595L

c.1783T>C

1 paper

NM_001007237.3

p.G603E

c.1808G>A

1 paper

NM_001007237.3

p.G544D

c.1631G>A