Varaico: Literature-Extracted Genetic Variants

Gene:LARP1
Variant:p.D423H

LARP1

71 papers

Pfam Domains

Laaa 202–258UCSCLa domain
Laaa 407–463UCSCLa domain
LARP1_HEATaa 669–817UCSCLARP1 HEAT repeat region

Gene Aliases

HGNC Name

La ribonucleoprotein 1, translational regulator

HGNC Alias Symbols

KIAA0731; MGC19556; Lar1; Lhp1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033551.3
p.D423H
c.1267G>C
Surrounding Variants
1 paper
NM_033551.3
p.T439Fs
c.1315delinsGAFs
1 paper
NM_033551.3
p.I411Splc
c.1232+1G>A
1 paper
NM_033551.3
p.S392S
c.1176C>T
1 paper
NM_033551.3
p.N389S
c.1166A>G
1 paper
NM_033551.3
p.K367M
c.1100A>T
1 paper
NM_033551.3
p.F359L
c.1077T>G
1 paper
NM_033551.3
p.T357Splc
c.1070-1G>T
1 paper
NM_033551.3
p.W306C
c.918G>T
1 paper
NM_033551.3
p.P301S
c.901C>T
1 paper
NM_033551.3
p.A300fs
c.898_899fs
1 paper
NM_033551.3
p.L268M
c.802C>A
1 paper
NM_033551.3
p.V263E
c.788T>A
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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."