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

1–12 of 166 variants

13 papers

NM_001199799.2

p.P69H

c.206C>A

10 papers

NM_001199799.2

p.Q195*

c.583C>T

9 papers

NM_001199799.2

p.R97Q

c.290G>A

8 papers

NM_001199799.2

p.M1I

c.3G>A

7 papers

NM_001199799.2

p.Q79delFs

c.235delG

6 papers

NM_001199799.2

p.V102E

c.305T>A

6 papers

NM_001199799.2

p.N109_P111ins1

c.325_333dup9

6 papers

NM_001199799.2

p.H167Splc

c.499+1G>A

6 papers

NM_001199799.2

p.Q258*

c.772C>T

6 papers

NM_001199799.2

p.Q274*

c.820C>T

6 papers

NM_001199799.2

p.C314*

c.942C>A

6 papers

NM_001199799.2

p.E379*

c.1135G>T