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

4 papers

NM_016648.4

p.R279Q

c.836G>A

Surrounding Variants

1 paper

NM_016648.4

p.R279fs

c.835_836fs

2 papers

NM_016648.4

p.K278fs

c.832_833fs

5 papers

NM_016648.4

p.K278*

c.832A>T

3 papers

NM_016648.4

p.V282_R291delFs

c.844_871del28

3 papers

NM_016648.4

p.K277fs

c.829_830fs

4 papers

NM_016648.4

p.K278insFs

c.834dupA

3 papers

NM_016648.4

p.K276fs

c.826_827fs

2 papers

NM_016648.4

p.K276insFs

c.827dupA

1 paper

NM_016648.4

p.S285insFs

c.855dupT

1 paper

NM_016648.4

p.E267*

c.799G>T

1 paper

NM_016648.4

p.I263T

c.788T>C

1 paper

NM_016648.4

p.S261C

c.782C>G