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.Y253C

c.758A>G

Surrounding Variants

1 paper

NM_001555.5

p.P251L

c.752C>T

1 paper

NM_001555.5

p.Q249delFs

c.747delT

1 paper

NM_001555.5

p.Q249R

c.746A>G

1 paper

NM_001555.5

p.Q249insFs

c.745dupC

1 paper

NM_001555.5

p.R247W

c.739A>T

1 paper

NM_001555.5

p.L246L

c.738C>G

1 paper

NM_001555.5

p.M260insFs

c.778_779insA

1 paper

NM_001555.5

p.L246I

c.736C>A

1 paper

NM_001555.5

p.V262delFs

c.785delA

1 paper

NM_001555.5

p.E242G

c.725A>G

1 paper

NM_001555.5

p.A239delFs

c.715delC

3 papers

NM_001555.5

p.S268A

c.802T>G