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.V529A

c.1586T>C

Surrounding Variants

1 paper

NM_001199799.2

p.K526N

c.1578A>T

1 paper

NM_001199799.2

p.K526N

c.1578A>C

1 paper

NM_001199799.2

p.K525N

c.1575A>T

2 papers

NM_001199799.2

p.G520G

c.1560C>A

2 papers

NM_001199799.2

p.L515L

c.1545T>G

1 paper

NM_001199799.2

p.R513P

c.1538G>C

2 papers

NM_001199799.2

p.P509L

c.1526C>T

1 paper

NM_001199799.2

p.S501P

c.1501T>C

2 papers

NM_175924.4

p.R453H

c.1358G>A

1 paper

NM_001199799.2

p.P489L

c.1466C>T

1 paper

NM_001199799.2

p.Q488K

c.1462C>A

1 paper

NM_001199799.2

p.R466H

c.1397G>A