Varaico: Literature-Extracted Genetic Variants

Gene:LILRB1
Variant:p.Q401H

LILRB1

151 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 28–118UCSCImmunoglobulin domain
igaa 332–409UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

leukocyte immunoglobulin like receptor B1

HGNC Alias Symbols

LIR-1; ILT2; MIR-7; CD85; LIR1; CD85j; PIRB; PIR-B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001081637.3
p.Q401H
c.1203G>C
Surrounding Variants
3 papers
NM_001081637.3
p.Q401H
c.1203G>T
4 papers
NM_001081637.3
p.Q401L
c.1202A>T
2 papers
NM_001081637.3
p.K404N
c.1212A>C
2 papers
NM_001081637.3
p.K404N
c.1212A>T
1 paper
NM_001081637.3
p.A392V
c.1175C>T
1 paper
NM_001081637.3
p.A390V
c.1169C>T
1 paper
NM_001081637.3
p.D413E
c.1239C>A
1 paper
NM_001081637.3
p.D413E
c.1239C>G
1 paper
NM_001081637.3
p.G385A
c.1154G>C
2 papers
NM_001081637.3
p.G385S
c.1153G>A
1 paper
NM_001081637.3
p.G421Splc
c.1261+2T>G
1 paper
NM_001081637.3
p.E381Q
c.1141G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."