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.C22S

c.64T>A

Surrounding Variants

1 paper

NM_001555.5

p.I23N

c.68T>A

1 paper

NM_001555.5

p.L20_F21insFs

c.60_61insG

1 paper

NM_001555.5

p.R24W

c.70C>T

1 paper

NM_001555.5

p.T17N

c.50C>A

1 paper

NM_001555.5

p.K14E

c.40A>G

1 paper

NM_001555.5

p.M12T

c.35T>C

2 papers

NM_001555.5

p.M12K

c.35T>A

1 paper

NM_001555.5

p.T2T

c.6C>T

1 paper

NM_001555.5

p.T2Fs

c.4delinsGTFs

1 paper

NM_001555.5

p.M1Fs

c.3delinsGTFs

1 paper

NM_001555.5

p.M1_T2insFs

c.3_4insT

1 paper

NM_001555.5

p.M1I

c.3G>A