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

7 papers

NM_001007237.3

p.R429C

c.1285C>T

Surrounding Variants

4 papers

NM_001007237.3

p.E426D

c.1278G>T

4 papers

NM_001007237.3

p.E426D

c.1278G>C

1 paper

NM_001007237.3

p.G425G

c.1275C>T

1 paper

NM_001007237.3

p.S433S

c.1299T>C

6 papers

NM_001007237.3

p.T436M

c.1307C>T

7 papers

NM_001007237.3

p.E414G

c.1241A>G

7 papers

NM_001007237.3

p.Q449*

c.1345C>T

11 papers

NM_001007237.3

p.R456C

c.1366C>T

NM_001542.4

p.R476C

c.1426C>T

1 paper

NM_001007237.3

p.R457C

c.1369C>T

1 paper

NM_001007237.3

p.L463L

c.1387C>T

1 paper

NM_001007237.3

p.W476*

c.1427G>A

2 papers

NM_001007237.3

p.G483S

c.1447G>A