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

2 papers

NM_016648.4

p.R366delFs

c.1097_1098delGA

Surrounding Variants

5 papers

NM_016648.4

p.K364fs

c.1090_1091fs

7 papers

NM_016648.4

p.K364_E365delFs

c.1091_1094del4

1 paper

NM_016648.4

p.H363_K364delFs

c.1089_1090delTA

5 papers

NM_016648.4

p.H363fs

c.1087_1088fs

3 papers

NM_016648.4

p.R366fs

c.1096_1097fs

3 papers

NM_016648.4

p.H363_K364delFs

c.1087_1091del5

2 papers

NM_016648.4

p.H359N

c.1075C>A

1 paper

NM_016648.4

p.V373_R377delFs

c.1118_1130del13

1 paper

NM_016648.4

p.V373fs

c.1117_1118fs

1 paper

NM_016648.4

p.L353fs

c.1057_1058fs

1 paper

NM_016648.4

p.V378M

c.1132G>A

1 paper

NM_016648.4

p.L352_L353delFs

c.1056_1057delCT