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.E394delFs

c.1180delC

Surrounding Variants

1 paper

NM_001199799.2

p.R392*

c.1174A>T

1 paper

NM_001199799.2

p.S398L

c.1193C>T

2 papers

NM_175924.4

p.W344delFs

c.1032delC

3 papers

NM_001199799.2

p.S387P

c.1159T>C

1 paper

NM_001199799.2

p.G384G

c.1152G>A

1 paper

NM_001199799.2

p.R404H

c.1211G>A

1 paper

NM_175924.4

p.G357_S361del5

c.1069_1082del15

6 papers

NM_001199799.2

p.E379*

c.1135G>T

1 paper

NM_001199799.2

p.G410R

c.1228G>C

1 paper

NM_001199799.2

p.G410R

c.1228G>A

1 paper

NM_001199799.2

p.H371H

c.1113C>T

1 paper

NM_001199799.2

p.R418K

c.1253G>A