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.I694S

c.2081T>G

Surrounding Variants

1 paper

NM_001170961.2

p.P697insFs

c.2091dupC

2 papers

NM_001170961.2

p.T698fs

c.2092_2093fs

1 paper

NM_001555.5

p.L683L

c.2049C>A

1 paper

NM_001170961.2

p.G716E

c.2147G>A

1 paper

NM_001555.5

p.E717K

c.2149G>A

1 paper

NM_001170961.2

p.A713_K721del0

c.2137_2163del27

6 papers

NM_001555.5

p.A713_E721del0

c.2137_2163del27

1 paper

NM_001555.5

p.P722H

c.2165C>A

1 paper

NM_001170961.2

p.E750fs

c.2248_2249fs

2 papers

NM_001555.5

p.E745delFs

c.2233delC

NM_001170961.2

p.E750delFs

c.2248delC

2 papers

NM_001555.5

p.C750delFs

c.2248delA

1 paper

NM_001555.5

p.R751C

c.2251C>T