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.Y1228*

c.3684C>G

Surrounding Variants

1 paper

NM_001555.5

p.R1229H

c.3686G>A

1 paper

NM_001170961.2

p.C1231Y

c.3692G>A

2 papers

NM_001170961.2

p.C1231G

c.3691T>G

1 paper

NM_001555.5

p.W1237*

c.3710G>A

1 paper

NM_001555.5

p.W1237*

c.3711G>A

1 paper

NM_001555.5

p.P1243insFs

c.3727dupC

1 paper

NM_001555.5

p.Q1203*

c.3607C>T

1 paper

NM_001555.5

p.E1199insFs

c.3596dupA

5 papers

NM_001555.5

p.E1200fs

c.3598_3599fs

1 paper

NM_001555.5

p.E1199_E1200insFs

c.3597_3598insT

1 paper

NM_001555.5

p.E1199insFs

c.3596_3597insT

1 paper

NM_001170961.2

p.E1200fs

c.3598_3599fs