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

1–12 of 192 variants

20 papers

NM_001007237.3

p.D254N

c.760G>A

16 papers

NM_001007237.3

p.Q212*

c.634C>T

13 papers

NM_001007237.3

p.W575*

c.1724G>A

12 papers

NM_001007237.3

p.W575*

c.1725G>A

11 papers

NM_001007237.3

p.Q212R

c.635A>G

10 papers

NM_001007237.3

p.R456C

c.1366C>T

10 papers

NM_001007237.3

p.S631I

c.1892G>T

10 papers

NM_001007237.3

p.R651L

c.1952G>T

9 papers

NM_001007237.3

p.S207G

c.619A>G

9 papers

NM_001007237.3

p.R660Q

c.1979G>A

8 papers

NM_001007237.3

p.I390T

c.1169T>C

8 papers

NM_001007237.3

p.I619T

c.1856T>C