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.K67E

c.199A>G

Surrounding Variants

1 paper

NM_001555.5

p.L69L

c.205C>T

1 paper

NM_001555.5

p.R63R

c.187C>A

1 paper

NM_001555.5

p.L71Q

c.212T>A

1 paper

NM_001555.5

p.S62A

c.184T>G

1 paper

NM_001555.5

p.P61L

c.182C>T

1 paper

NM_001555.5

p.D73E

c.219T>G

1 paper

NM_001555.5

p.D73E

c.219T>A

1 paper

NM_001555.5

p.K74fs

c.220_221fs

1 paper

NM_001555.5

p.C58W

c.174C>G

1 paper

NM_001555.5

p.T75K

c.224C>A

1 paper

NM_001555.5

p.W57fs

c.169_170fs

1 paper

NM_001555.5

p.M77delFs

c.230delA