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.P356R

c.1067C>G

Surrounding Variants

1 paper

NM_175924.4

p.P314P

c.942C>A

1 paper

NM_001199799.2

p.Q352H

c.1056G>T

1 paper

NM_001199799.2

p.Q352H

c.1056G>C

1 paper

NM_001199799.2

p.W362R

c.1084T>C

1 paper

NM_001199799.2

p.T345fs

c.1033_1034fs

5 papers

NM_001199799.2

p.R344delFs

c.1032delC

1 paper

NM_001199799.2

p.H371H

c.1113C>T

1 paper

NM_001199799.2

p.L339L

c.1015C>T

1 paper

NM_001199799.2

p.L335delFs

c.1005delC

6 papers

NM_001199799.2

p.E379*

c.1135G>T

1 paper

NM_001199799.2

p.P333S

c.997C>T

1 paper

NM_001199799.2

p.G384G

c.1152G>A