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.R751C

c.2251C>T

Surrounding Variants

2 papers

NM_001555.5

p.C750delFs

c.2248delA

1 paper

NM_001555.5

p.R751R

c.2253C>T

2 papers

NM_001555.5

p.E745delFs

c.2233delC

NM_001170961.2

p.E750delFs

c.2248delC

1 paper

NM_001170961.2

p.R762fs

c.2284_2285fs

1 paper

NM_001170961.2

p.E750fs

c.2248_2249fs

1 paper

NM_001555.5

p.K760fs

c.2278_2279fs

1 paper

NM_001555.5

p.K760Fs

c.2279_2280delinsCFs

1 paper

NM_001555.5

p.W761insFs

c.2283dupG

3 papers

NM_001555.5

p.S762insFs

c.2284_2285insA

1 paper

NM_001555.5

p.S762insFs

c.2285_2286insA

1 paper

NM_001555.5

p.E763V

c.2288A>T

1 paper

NM_001555.5

p.P764R

c.2291C>G