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.L1194insFs

c.3581dupT

NM_001170961.2

p.L1199insFs

c.3596_3597insT

Surrounding Variants

1 paper

NM_001170961.2

p.E1200fs

c.3598_3599fs

1 paper

NM_001555.5

p.E1199insFs

c.3596_3597insT

1 paper

NM_001555.5

p.E1199_E1200insFs

c.3597_3598insT

1 paper

NM_001555.5

p.E1199insFs

c.3596dupA

5 papers

NM_001555.5

p.E1200fs

c.3598_3599fs

1 paper

NM_001555.5

p.L1187L

c.3559C>T

1 paper

NM_001555.5

p.Q1203*

c.3607C>T

1 paper

NM_001555.5

p.R1184Q

c.3551G>A

3 papers

NM_001555.5

p.R1184*

c.3550C>T

NM_001170961.2

p.R1189*

c.3565C>T

1 paper

NM_001555.5

p.D1178D

c.3534C>T

1 paper

NM_001555.5

p.K1177insFs

c.3529_3530insC

2 papers

NM_001555.5

p.F1173delFs

c.3518delA