Varaico: Literature-Extracted Genetic Variants

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.Q166H

c.498G>C

Surrounding Variants

1 paper

NM_022173.4

p.Q170fs

c.508_509fs

1 paper

NM_022173.4

p.Q170Q

c.510G>A

1 paper

NM_022173.4

p.I177V

c.529A>G

1 paper

NM_022173.4

p.R184*

c.550C>T

1 paper

NM_022173.4

p.K185E

c.553A>G

1 paper

NM_022173.4

p.A188T

c.562G>A

1 paper

NM_022173.4

p.Y202H

c.604T>C

1 paper

NM_022173.4

p.S209Y

c.626C>A

1 paper

NM_022173.4

p.Q228*

c.682C>T

1 paper

NM_022173.4

p.R231R

c.693T>A

1 paper

NM_022173.4

p.P236L

c.707C>T

1 paper

NM_022173.4

p.G238R

c.712G>A