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.R33fs

c.97_98fs

Surrounding Variants

1 paper

NM_001199799.2

p.R33C

c.97C>T

1 paper

NM_001199799.2

p.R33S

c.97C>A

1 paper

NM_001199799.2

p.R33H

c.98G>A

1 paper

NM_001199799.2

p.R33delFs

c.97delG

1 paper

NM_001199799.2

p.H30Y

c.88C>T

1 paper

NM_001199799.2

p.Q29P

c.86A>C

4 papers

NM_001199799.2

p.V28delFs

c.82delC

1 paper

NM_001199799.2

p.V28fs

c.82_83fs

1 paper

NM_001199799.2

p.I41V

c.121A>G

1 paper

NM_001199799.2

p.C45S

c.133T>A

1 paper

NM_001199799.2

p.C45S

c.134G>C

1 paper

NM_001199799.2

p.D46N

c.136G>A