Varaico: Literature-Extracted Genetic Variants

LILRB4

60 papers

RefSeq Summary

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class o...

Pfam Domains

Ig_2aa 28–117UCSCImmunoglobulin domain

igaa 130–207UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

leukocyte immunoglobulin like receptor B4

HGNC Alias Symbols

LIR-5; ILT3; HM18; LIR5; CD85k

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001278426.4

p.A403S

c.1207G>T

Surrounding Variants

1 paper

NM_001278426.4

p.A403T

c.1207G>A

1 paper

NM_001278426.4

p.A406V

c.1217C>T

2 papers

NM_001278426.4

p.P407S

c.1219C>T

1 paper

NM_001278426.4

p.P407L

c.1220C>T

1 paper

NM_001278426.4

p.Q408*

c.1222C>T

1 paper

NM_001278426.4

p.R414Q

c.1241G>A

1 paper

NM_001278426.4

p.S417N

c.1250G>A

1 paper

NM_001278426.4

p.R421R

c.1263A>G

1 paper

NM_001278426.4

p.E400_A401Splc

c.1200+2T>A

1 paper

NM_001278426.4

p.E400delFs

c.1200delG

2 papers

NM_001278426.4

p.E400fs

c.1198_1199fs

1 paper

NM_001278426.4

p.R395R

c.1185A>G