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.M1076I

c.3228G>A

Surrounding Variants

1 paper

NM_001555.5

p.M1076I

c.3228G>T

1 paper

NM_001555.5

p.M1076I

c.3228G>C

1 paper

NM_001170961.2

p.V1082E

c.3245T>A

1 paper

NM_001555.5

p.E1081K

c.3241G>A

2 papers

NM_001555.5

p.T1084insFs

c.3251dupC

1 paper

NM_001555.5

p.R1116K

c.3347G>A

1 paper

NM_001555.5

p.P1122L

c.3365C>T

2 papers

NM_001555.5

p.Y1132*

c.3396T>G

NM_001170961.2

p.Y1137*

c.3411T>G

2 papers

NM_001555.5

p.Y1132*

c.3396T>A

NM_001170961.2

p.Y1137*

c.3411T>A

1 paper

NM_001555.5

p.Y1132_S1133delFs

c.3396_3397delTA

4 papers

NM_001555.5

p.Y1137*

c.3411T>G

4 papers

NM_001555.5

p.Y1137*

c.3411T>A