Varaico: Literature-Extracted Genetic Variants

ILDR1

125 papers

RefSeq Summary

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic ...

Pfam Domains

LSRaa 167–214UCSCLipolysis stimulated receptor (LSR)

Gene Aliases

HGNC Name

immunoglobulin like domain containing receptor 1

HGNC Previous Symbol

DFNB42

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001199799.2

p.R453W

c.1357C>T

Surrounding Variants

6 papers

NM_001199799.2

p.R453Q

c.1358G>A

1 paper

NM_001199799.2

p.S455N

c.1364G>A

1 paper

NM_001199799.2

p.R461*

c.1381A>T

4 papers

NM_001199799.2

p.R462*

c.1384C>T

3 papers

NM_001199799.2

p.R463C

c.1387C>T

1 paper

NM_001199799.2

p.R461_R463insFs

c.1383_1387dup5

2 papers

NM_001199799.2

p.R442C

c.1324C>T

1 paper

NM_001199799.2

p.H465Y

c.1393C>T

1 paper

NM_001199799.2

p.R466H

c.1397G>A

2 papers

NM_175924.4

p.D379Y

c.1135G>T

1 paper

NM_001199799.2

p.R418K

c.1253G>A

1 paper

NM_001199799.2

p.Q488K

c.1462C>A