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.V69L

c.205G>C

Surrounding Variants

6 papers

NM_016648.4

p.I71_S72insFs

c.213_214dupAT

4 papers

NM_016648.4

p.S72fs

c.214_215fs

3 papers

NM_016648.4

p.S72fs

c.214_215fs

1 paper

NM_016648.4

p.L74delFs

c.222delT

2 papers

NM_016648.4

p.L104F

c.312G>C

1 paper

NM_016648.4

p.T107S

c.320C>G

2 papers

NM_016648.4

p.T107I

c.320C>T

2 papers

NM_016648.4

p.E117delFs

c.349delG

1 paper

NM_016648.4

p.E117fs

c.349_350fs

1 paper

NM_016648.4

p.E117fs

c.349_350fs

2 papers

NM_016648.4

p.E124delFs

c.370delG

2 papers

NM_016648.4

p.E124fs

c.370_371fs