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

1 paper

NM_001007237.3

p.H342delFs

c.1026delG

Surrounding Variants

1 paper

NM_001007237.3

p.L349delFs

c.1046delA

4 papers

NM_001007237.3

p.K350N

c.1050G>T

4 papers

NM_001007237.3

p.K350N

c.1050G>C

1 paper

NM_001007237.3

p.P334S

c.1000C>T

1 paper

NM_001007237.3

p.D356H

c.1066G>C

1 paper

NM_001007237.3

p.R367L

c.1100G>T

1 paper

NM_001007237.3

p.R367H

c.1100G>A

1 paper

NM_001007237.3

p.R312S

c.934C>A

1 paper

NM_001007237.3

p.P310P

c.930C>T

1 paper

NM_001007237.3

p.T386T

c.1158C>G

1 paper

NM_001007237.3

p.P297P

c.891G>A

8 papers

NM_001007237.3

p.I390T

c.1169T>C