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.V221E

c.662T>A

Surrounding Variants

1 paper

NM_001555.5

p.L219P

c.656T>C

1 paper

NM_001555.5

p.P216S

c.646C>T

1 paper

NM_001555.5

p.S211T

c.631T>A

1 paper

NM_001555.5

p.G223Splc

c.667+42C>G

1 paper

NM_001555.5

p.Q204H

c.612G>T

1 paper

NM_001555.5

p.Q204H

c.612G>C

2 papers

NM_001555.5

p.I198F

c.592A>T

1 paper

NM_001555.5

p.G195A

c.584G>C

1 paper

NM_001555.5

p.E192G

c.575A>G

1 paper

NM_001555.5

p.S185Y

c.554C>A

1 paper

NM_001555.5

p.P171insFs

c.512dupC

1 paper

NM_001555.5

p.E170G

c.509A>G