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

1–12 of 353 variants

6 papers

NM_001555.5

p.A713_E721del0

c.2137_2163del27

5 papers

NM_001555.5

p.L569fs

c.1705_1706fs

5 papers

NM_001555.5

p.E1200fs

c.3598_3599fs

4 papers

NM_001555.5

p.W114R

c.340T>A

4 papers

NM_001555.5

p.E166D

c.498G>T

4 papers

NM_001555.5

p.E166D

c.498G>C

4 papers

NM_001555.5

p.P863L

c.2588C>T

4 papers

NM_001555.5

p.Y1137*

c.3411T>G

4 papers

NM_001555.5

p.Y1137*

c.3411T>A

3 papers

NM_001555.5

p.M1T

c.2T>C

3 papers

NM_001555.5

p.S268A

c.802T>G

3 papers

NM_001555.5

p.N380fs

c.1138_1139fs