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.W240*

c.719G>A

Surrounding Variants

1 paper

NM_001199799.2

p.W240*

c.720G>A

1 paper

NM_001199799.2

p.A242fs

c.724_725fs

1 paper

NM_001199799.2

p.V248I

c.742G>A

1 paper

NM_001199799.2

p.P231L

c.692C>T

1 paper

NM_001199799.2

p.S249delFs

c.745delA

1 paper

NM_001199799.2

p.S249fs

c.745_746fs

1 paper

NM_001199799.2

p.L229P

c.686T>C

2 papers

NM_001199799.2

p.P255L

c.764C>T

6 papers

NM_001199799.2

p.Q258*

c.772C>T

1 paper

NM_001199799.2

p.R259*

c.775C>T

1 paper

NM_001199799.2

p.R221L

c.662G>T

1 paper

NM_001199799.2

p.R219C

c.655C>T