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.Y852D

c.2554T>G

Surrounding Variants

2 papers

NM_001555.5

p.Y851*

c.2553T>G

NM_001170961.2

p.Y856*

c.2568T>G

1 paper

NM_001170961.2

p.Y856*

c.2568T>A

3 papers

NM_001555.5

p.R850*

c.2548C>T

2 papers

NM_001170961.2

p.S863F

c.2588C>T

1 paper

NM_001170961.2

p.S863C

c.2588C>G

1 paper

NM_001555.5

p.G844*

c.2530G>T

1 paper

NM_001555.5

p.P860S

c.2578C>T

2 papers

NM_001555.5

p.P860R

c.2579C>G

4 papers

NM_001555.5

p.P863L

c.2588C>T

2 papers

NM_001555.5

p.P863R

c.2588C>G

1 paper

NM_001555.5

p.I837delFs

c.2509delT

2 papers

NM_001170961.2

p.E875Splc

c.2623+1G>C

NM_001555.5

p.E870Splc

c.2608+1G>C