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.D91E

c.273C>G

Surrounding Variants

1 paper

NM_001199799.2

p.D91E

c.273C>A

1 paper

NM_001199799.2

p.D94H

c.280G>C

9 papers

NM_001199799.2

p.R97Q

c.290G>A

1 paper

NM_001199799.2

p.E98K

c.292G>A

1 paper

NM_001199799.2

p.S83F

c.248C>T

1 paper

NM_001199799.2

p.S83delFs

c.247delA

1 paper

NM_001199799.2

p.L82delFs

c.245delA

1 paper

NM_001199799.2

p.R100delFs

c.299_300delGC

6 papers

NM_001199799.2

p.V102E

c.305T>A

1 paper

NM_001199799.2

p.A103ins1

c.308_309insCTG

7 papers

NM_001199799.2

p.Q79delFs

c.235delG

2 papers

NM_001199799.2

p.Y78*

c.234C>G