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.E216Splc

c.646+5G>C

Surrounding Variants

1 paper

NM_016648.4

p.V214insFs

c.642dupT

1 paper

NM_016648.4

p.K202fs

c.604_605fs

1 paper

NM_016648.4

p.K202delFs

c.604_605delAA

1 paper

NM_016648.4

p.F200del1

c.598_599delTTT

6 papers

NM_016648.4

p.E217_K219delFs

c.651_655del5

1 paper

NM_016648.4

p.E216delFs

c.647_648delAA

2 papers

NM_016648.4

p.E217D

c.651G>C

2 papers

NM_016648.4

p.E217D

c.651G>T

4 papers

NM_016648.4

p.K219fs

c.655_656fs

1 paper

NM_016648.4

p.K219E

c.655A>G

2 papers

NM_016648.4

p.K219fs

c.655_656fs

1 paper

NM_016648.4

p.K222del1

c.664_666delAAG