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

2 papers

NM_001199799.2

p.Y143delFs

c.427delA

Surrounding Variants

3 papers

NM_001199799.2

p.Y143C

c.428A>G

1 paper

NM_001199799.2

p.Y143fs

c.427_428fs

1 paper

NM_001199799.2

p.C145Y

c.434G>A

5 papers

NM_001199799.2

p.G141R

c.421G>C

5 papers

NM_001199799.2

p.G141R

c.421G>A

1 paper

NM_001199799.2

p.H140L

c.419A>T

5 papers

NM_001199799.2

p.W137delFs

c.411delC

1 paper

NM_001199799.2

p.W137fs

c.409_410fs

1 paper

NM_001199799.2

p.S154L

c.461C>T

1 paper

NM_001199799.2

p.D156Y

c.466G>T

2 papers

NM_001199799.2

p.P157P

c.471C>T

1 paper

NM_001199799.2

p.D158N

c.472G>A