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.F282S

c.845T>C

Surrounding Variants

1 paper

NM_001555.5

p.K272N

c.816G>T

2 papers

NM_001555.5

p.G292R

c.874G>C

1 paper

NM_001555.5

p.K272N

c.816G>C

2 papers

NM_001555.5

p.G292R

c.874G>A

3 papers

NM_001555.5

p.S268A

c.802T>G

1 paper

NM_001555.5

p.Y299S

c.896A>C

1 paper

NM_001555.5

p.V262delFs

c.785delA

1 paper

NM_001555.5

p.R304*

c.910A>T

1 paper

NM_001555.5

p.M260insFs

c.778_779insA

1 paper

NM_001555.5

p.S306_L307insAG

c.916_920ins6

1 paper

NM_001555.5

p.S306T

c.916T>A

1 paper

NM_001555.5

p.S309fs

c.925_926fs