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

3 papers

NM_001007237.3

p.R634*

c.1900C>T

Surrounding Variants

1 paper

NM_001007237.3

p.R634Q

c.1901G>A

1 paper

NM_001007237.3

p.A635V

c.1904C>T

2 papers

NM_001007237.3

p.A635G

c.1904C>G

10 papers

NM_001007237.3

p.S631I

c.1892G>T

4 papers

NM_001007237.3

p.R629C

c.1885C>T

8 papers

NM_001007237.3

p.I619T

c.1856T>C

5 papers

NM_001007237.3

p.L649L

c.1945C>T

7 papers

NM_001007237.3

p.R651W

c.1951C>T

10 papers

NM_001007237.3

p.R651L

c.1952G>T

2 papers

NM_001007237.3

p.R614*

c.1840C>T

1 paper

NM_001007237.3

p.R660*

c.1978C>T

9 papers

NM_001007237.3

p.R660Q

c.1979G>A