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

4 papers

NM_001555.5

p.E166D

c.498G>C

Surrounding Variants

4 papers

NM_001555.5

p.E166D

c.498G>T

1 paper

NM_001555.5

p.K165E

c.493A>G

1 paper

NM_001555.5

p.Y168insFs

c.502_503insT

1 paper

NM_001555.5

p.E170G

c.509A>G

1 paper

NM_001555.5

p.P171insFs

c.512dupC

1 paper

NM_001555.5

p.G154G

c.462C>A

1 paper

NM_001555.5

p.V148fs

c.442_443fs

1 paper

NM_001555.5

p.S185Y

c.554C>A

1 paper

NM_001555.5

p.A142V

c.425C>T

1 paper

NM_001555.5

p.E192G

c.575A>G

1 paper

NM_001555.5

p.E139G

c.416A>G

1 paper

NM_001555.5

p.G195A

c.584G>C