Varaico: Literature-Extracted Genetic Variants

Gene:TIA1
Variant:p.Q348R

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
Selected Variant
1 paper
NM_022173.4
p.Q348R
c.1043A>G
Surrounding Variants
1 paper
NM_022173.4
p.Q348L
c.1043A>T
5 papers
NM_022173.4
p.S349P
c.1045T>C
1 paper
NM_022173.4
p.Q346L
c.1037A>T
1 paper
NM_022173.4
p.N345K
c.1035T>G
1 paper
NM_022173.4
p.N345K
c.1035T>A
1 paper
NM_022173.4
p.N345S
c.1034A>G
1 paper
NM_022173.4
p.P352T
c.1054C>A
7 papers
NM_022173.4
p.P352L
c.1055C>T
5 papers
NM_022173.4
p.G355R
c.1063G>C
5 papers
NM_022173.4
p.G355R
c.1063G>A
20 papers
NM_022173.4
p.N357S
c.1070A>G
3 papers
NM_022037.4
p.V349M
c.1045G>A
NM_022173.4
p.V360M
c.1078G>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."