Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPLL
Variant:p.S7F

HNRNPLL

26 papers

RefSeq Summary

HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell developm...

Pfam Domains

RRM_1aa 78–130UCSCRNA recognition motif
RRM_8aa 159–244UCSCRRM-like domain
RRM_5aa 311–433UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
RRM_10aa 446–541UCSCRRM domain

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein L like

HGNC Previous Symbol

HNRPLL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138394.4
p.S7F
c.20C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."