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.W3*

c.8G>A

Surrounding Variants

1 paper

NM_001199799.2

p.W3*

c.9G>A

1 paper

NM_001199799.2

p.P4L

c.11C>T

4 papers

NM_001199799.2

p.M1I

c.3G>T

4 papers

NM_001199799.2

p.M1I

c.3G>C

8 papers

NM_001199799.2

p.M1I

c.3G>A

1 paper

NM_001199799.2

p.M1V

c.1A>G

1 paper

NM_001199799.2

p.P9L

c.26C>T

1 paper

NM_001199799.2

p.L12insFs

c.35_36insG

1 paper

NM_001199799.2

p.L17L

c.51C>T

4 papers

NM_001199799.2

p.G20Splc

c.58+1G>A