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

2 papers

NM_001555.5

p.T801I

c.2402C>T

Surrounding Variants

2 papers

NM_001170961.2

p.H808fs

c.2422_2423fs

3 papers

NM_001170961.2

p.H808insFs

c.2422dupC

NM_001555.5

p.H803insFs

c.2407dupC

2 papers

NM_001555.5

p.T796delFs

c.2388delA

1 paper

NM_001170961.2

p.M811fs

c.2431_2432fs

2 papers

NM_001555.5

p.M806delFs

c.2416_2417delAT

NM_001170961.2

p.M811delFs

c.2431_2432delAT

1 paper

NM_001555.5

p.R794*

c.2380C>T

2 papers

NM_001555.5

p.F808insFs

c.2422dupT

1 paper

NM_001555.5

p.F808delFs

c.2422delA

1 paper

NM_001555.5

p.I809delFs

c.2426_2427delAA

1 paper

NM_001555.5

p.V789V

c.2367C>G

1 paper

NM_001555.5

p.W784*

c.2351G>A

1 paper

NM_001170961.2

p.S824F

c.2471C>T