Varaico: Literature-Extracted Genetic Variants

IGSF1

304 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate ...

Pfam Domains

Ig_2aa 37–125UCSCImmunoglobulin domain

Ig_2aa 322–414UCSCImmunoglobulin domain

Ig_2aa 685–772UCSCImmunoglobulin domain

Ig_2aa 779–868UCSCImmunoglobulin domain

Ig_2aa 874–964UCSCImmunoglobulin domain

Ig_2aa 970–1060UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

immunoglobulin superfamily member 1

HGNC Alias Symbols

KIAA0364; IGDC1; IGCD1; INHBP; MGC75490; PGSF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001555.5

p.K591insFs

c.1772dupA

Surrounding Variants

1 paper

NM_001170961.2

p.P597L

c.1790C>T

1 paper

NM_001170961.2

p.E598V

c.1793A>T

2 papers

NM_001170961.2

p.N604T

c.1811A>C

1 paper

NM_001555.5

p.F600Y

c.1799T>A

1 paper

NM_001555.5

p.P601delFs

c.1801delG

1 paper

NM_001555.5

p.A603A

c.1809C>A

2 papers

NM_001555.5

p.W605*

c.1814G>A

NM_001170961.2

p.W610*

c.1829G>A

1 paper

NM_001555.5

p.W605*

c.1815G>A

1 paper

NM_001555.5

p.W611*

c.1833G>A

1 paper

NM_001555.5

p.L625L

c.1875G>A

1 paper

NM_001555.5

p.G630delins

c.1888_1889delinsGC

1 paper

NM_001170961.2

p.Q645*

c.1933C>T