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

13 papers

NM_001199799.2

p.P69H

c.206C>A

Surrounding Variants

1 paper

NM_001199799.2

p.K67M

c.200A>T

1 paper

NM_001199799.2

p.T59_S64delFs

c.176_191del16

2 papers

NM_001199799.2

p.A76V

c.227C>T

1 paper

NM_001199799.2

p.A76A

c.228G>A

2 papers

NM_001199799.2

p.R61H

c.182G>A

1 paper

NM_001199799.2

p.S77delFs

c.229delA

1 paper

NM_001199799.2

p.R61C

c.181C>T

1 paper

NM_001199799.2

p.S77Splc

c.229+5G>A

3 papers

NM_001199799.2

p.V56delFs

c.167delA

1 paper

NM_001199799.2

p.D46N

c.136G>A

1 paper

NM_001199799.2

p.C45S

c.134G>C

1 paper

NM_001199799.2

p.C45S

c.133T>A