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

6 papers

NM_001199799.2

p.Q274*

c.820C>T

Surrounding Variants

4 papers

NM_001199799.2

p.P268delFs

c.804delC

2 papers

NM_001199799.2

p.P264R

c.791C>G

1 paper

NM_001199799.2

p.L263L

c.789G>C

2 papers

NM_001199799.2

p.L289W

c.866T>G

1 paper

NM_001199799.2

p.R294W

c.880C>T

1 paper

NM_001199799.2

p.P301S

c.901C>T

1 paper

NM_001199799.2

p.Q300delFs

c.900delC

1 paper

NM_001199799.2

p.A299_Q300del2

c.895_899del6

1 paper

NM_001199799.2

p.P304A

c.910C>G

1 paper

NM_001199799.2

p.G308_R309insCTG

c.922_926ins9

2 papers

NM_001199799.2

p.G308D

c.923G>A

1 paper

NM_001199799.2

p.R309G

c.925A>G