Varaico: Literature-Extracted Genetic Variants

Gene:LRRD1
Variant:p.M430K

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.M430K
c.1289T>A
Surrounding Variants
1 paper
NM_001161528.2
p.C463R
c.1387T>C
1 paper
NM_001161528.2
p.S392P
c.1174T>C
1 paper
NM_001161528.2
p.Y473insFs
c.1419dupT
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.Y498*
c.1494T>A
1 paper
NM_001161528.2
p.E329*
c.985G>T
1 paper
NM_001161528.2
p.P549S
c.1645C>T
1 paper
NM_001161528.2
p.Q291*
c.871C>T
1 paper
NM_001161528.2
p.V284fs
c.850_851fs
1 paper
NM_001161528.2
p.T577T
c.1731T>C
1 paper
NM_001161528.2
p.N267fs
c.799_800fs
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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."