Varaico: Literature-Extracted Genetic Variants

Gene:LARP7

LARP7

98 papers

RefSeq Summary

This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which ...

Pfam Domains

Laaa 38–96UCSCLa domain
RRM_1aa 127–190UCSCRNA recognition motif
RRM_3aa 454–552UCSCRNA binding motif

Gene Aliases

HGNC Name

La ribonucleoprotein 7, transcriptional regulator

HGNC Alias Symbols

HDCMA18P; PIP7S; DKFZP564K112

Papers
RefSeq ID
Protein change
DNA change
1–12 of 130 variants
11 papers
NM_016648.4
p.K342_T344insFs
c.1024_1030dup7
9 papers
NM_016648.4
p.T344fs
c.1030_1031fs
8 papers
NM_016648.4
p.K252_R253delFs
c.756_757delAA
7 papers
NM_016648.4
p.K364_E365delFs
c.1091_1094del4
6 papers
NM_016648.4
p.I71_S72insFs
c.213_214dupAT
6 papers
NM_016648.4
p.E217_K219delFs
c.651_655del5
5 papers
NM_016648.4
p.R253I
c.758G>T
5 papers
NM_016648.4
p.K278*
c.832A>T
5 papers
NM_016648.4
p.H363fs
c.1087_1088fs
5 papers
NM_016648.4
p.K364fs
c.1090_1091fs
4 papers
NM_016648.4
p.S72fs
c.214_215fs
4 papers
NM_016648.4
p.E216Splc
c.646+5G>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."