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

3 papers

NM_001199799.2

p.R127Splc

c.379+1G>A

Surrounding Variants

1 paper

NM_001199799.2

p.R127Splc

c.379+1G>T

1 paper

NM_001199799.2

p.R127*

c.379C>T

1 paper

NM_001199799.2

p.I124I

c.372C>T

1 paper

NM_001199799.2

p.R127Splc

c.379+10G>C

1 paper

NM_001199799.2

p.Q119_K121delFs

c.357_361del5

1 paper

NM_001199799.2

p.R118_Q119insFs

c.353_357dup5

1 paper

NM_001199799.2

p.R118W

c.352C>T

1 paper

NM_001199799.2

p.G114R

c.340G>C

1 paper

NM_001199799.2

p.G114R

c.340G>A

6 papers

NM_001199799.2

p.N109_P111ins1

c.325_333dup9

1 paper

NM_001199799.2

p.R106Q

c.317G>A

1 paper

NM_001199799.2

p.R105P

c.314G>C