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

4 papers

NM_001555.5

p.W114R

c.340T>A

Surrounding Variants

1 paper

NM_001555.5

p.T112A

c.334A>G

1 paper

NM_001555.5

p.W109C

c.327G>T

1 paper

NM_001555.5

p.W109C

c.327G>C

1 paper

NM_001555.5

p.S118N

c.353G>A

2 papers

NM_001555.5

p.Y104N

c.310T>A

1 paper

NM_001555.5

p.E124_A125insFs

c.372_373insC

1 paper

NM_001555.5

p.G102_L103insFs

c.306_307insAG

2 papers

NM_001555.5

p.A125delFs

c.373delC

1 paper

NM_001555.5

p.A101V

c.302C>T

2 papers

NM_001555.5

p.N100Y

c.298A>T

1 paper

NM_001555.5

p.E98D

c.294G>T

1 paper

NM_001555.5

p.E98D

c.294G>C