Varaico: Literature-Extracted Genetic Variants

Gene:TIA1

TIA1

217 papers

RefSeq Summary

The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein...

Pfam Domains

RRM_1aa 9–77UCSCRNA recognition motif
RRM_1aa 108–143UCSCRNA recognition motif
RRM_1aa 108–178UCSCRNA recognition motif
RRM_1aa 216–280UCSCRNA recognition motif

Gene Aliases

HGNC Name

TIA1 cytotoxic granule associated RNA binding protein

HGNC Alias Symbol

TIA-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
37 papers
NM_022173.4
p.E384K
c.1150G>A
25 papers
NM_022173.4
p.P362L
c.1085C>T
20 papers
NM_022173.4
p.N357S
c.1070A>G
15 papers
NM_022173.4
p.A381T
c.1141G>A
14 papers
NM_022173.4
p.A127A
c.381A>T
7 papers
NM_022173.4
p.P352L
c.1055C>T
5 papers
NM_022173.4
p.S349P
c.1045T>C
5 papers
NM_022173.4
p.G355R
c.1063G>C
5 papers
NM_022173.4
p.G355R
c.1063G>A
3 papers
NM_022173.4
p.I300T
c.899T>C
2 papers
NM_022173.4
p.M1I
c.3G>A
2 papers
NM_022173.4
p.V294M
c.880G>A
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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."