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.D372G

c.1115A>G

Surrounding Variants

1 paper

NM_001555.5

p.I371I

c.1113C>T

1 paper

NM_001555.5

p.T369N

c.1106C>A

1 paper

NM_001555.5

p.F377L

c.1129T>C

1 paper

NM_001555.5

p.F377L

c.1131C>G

1 paper

NM_001555.5

p.F377L

c.1131C>A

3 papers

NM_001555.5

p.N380fs

c.1138_1139fs

3 papers

NM_001555.5

p.L379_N380delFs

c.1137_1138delTG

1 paper

NM_001555.5

p.N381S

c.1142A>G

1 paper

NM_001555.5

p.T387delFs

c.1161delA

1 paper

NM_001555.5

p.L395R

c.1184T>G

1 paper

NM_001555.5

p.R344*

c.1030C>T

1 paper

NM_001555.5

p.L341Q

c.1022T>A