Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_016648.4

p.D242G

c.725A>G

Surrounding Variants

2 papers

NM_016648.4

p.T243insFs

c.728_729dupCA

2 papers

NM_016648.4

p.S244fs

c.730_731fs

1 paper

NM_016648.4

p.T246delFs

c.738delC

1 paper

NM_016648.4

p.S247fs

c.739_740fs

2 papers

NM_016648.4

p.I248F

c.742A>T

2 papers

NM_016648.4

p.M251delFs

c.752delT

1 paper

NM_016648.4

p.M251K

c.752T>A

8 papers

NM_016648.4

p.K252_R253delFs

c.756_757delAA

2 papers

NM_016648.4

p.R253fs

c.757_758fs

2 papers

NM_016648.4

p.R253fs

c.757_758fs

5 papers

NM_016648.4

p.R253I

c.758G>T

1 paper

NM_016648.4

p.K230_N233Fs

c.690_699delinsTCCAAGCCAATAGACAATATCCAAGCCFs