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.Y159_K160insFs

c.475_478dup4

Surrounding Variants

1 paper

NM_016648.4

p.H158_Y159del2

c.472_476del6

1 paper

NM_016648.4

p.K160fs

c.478_479fs

1 paper

NM_016648.4

p.I156fs

c.466_467fs

1 paper

NM_016648.4

p.I156_S161delFs

c.466_481del16

2 papers

NM_016648.4

p.F168insFs

c.503_504dupTT

2 papers

NM_016648.4

p.A169fs

c.505_506fs

1 paper

NM_016648.4

p.K147delFs

c.441delA

1 paper

NM_016648.4

p.R143fs

c.427_428fs

1 paper

NM_016648.4

p.R143_V144delFs

c.429_430delAG

1 paper

NM_016648.4

p.T175insFs

c.524_525insTT

2 papers

NM_016648.4

p.E130A

c.389A>C

1 paper

NM_016648.4

p.F185fs

c.553_554fs