Varaico: Literature-Extracted Genetic Variants

Gene:LRRD1
Variant:p.Y682*

LRRD1

42 papers

Pfam Domains

LRR_14aa 158–300UCSCLeucine-rich repeat region
LRR_8aa 326–384UCSCLeucine rich repeat
LRR_14aa 510–638UCSCLeucine-rich repeat region
LRR_14aa 555–662UCSCLeucine-rich repeat region
LRR_14aa 644–818UCSCLeucine-rich repeat region
Death_Lrrd1aa 763–852UCSCLrrd1 death domain

Gene Aliases

HGNC Name

leucine rich repeats and death domain containing 1

HGNC Alias Symbol

IMAGE:4798971

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001161528.2
p.Y682*
c.2046C>A
Surrounding Variants
1 paper
NM_001161528.2
p.Y682*
c.2046C>G
1 paper
NM_001161528.2
p.N669Y
c.2005A>T
1 paper
NM_001161528.2
p.Q652E
c.1954C>G
1 paper
NM_001161528.2
p.E620*
c.1858G>T
1 paper
NM_001161528.2
p.E620Q
c.1858G>C
1 paper
NM_001161528.2
p.P618L
c.1853C>T
1 paper
NM_001161528.2
p.T577T
c.1731T>C
1 paper
NM_001161528.2
p.P549S
c.1645C>T
1 paper
NM_001161528.2
p.Y498*
c.1494T>A
1 paper
NM_001161528.2
p.N474K
c.1422C>G
1 paper
NM_001161528.2
p.N474K
c.1422C>A
1 paper
NM_001161528.2
p.Y473insFs
c.1419dupT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."