Varaico: Literature-Extracted Genetic Variants

Gene:PRAMEF1
Variant:p.W170*

PRAMEF1

110 papers

RefSeq Summary

This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternativ...

Pfam Domains

PRAME_Naa 6–113UCSCPRAME N-terminal domain
PRAME_Caa 147–474UCSCPRAME C-terminal domain

Gene Aliases

HGNC Name

PRAME family member 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023013.4
p.W170*
c.509G>A
Surrounding Variants
1 paper
NM_023013.4
p.W170*
c.510G>A
1 paper
NM_023013.4
p.L167F
c.499C>T
2 papers
NM_023013.4
p.Y166H
c.496T>C
1 paper
NM_023013.4
p.R165*
c.493A>T
1 paper
NM_023013.4
p.H179D
c.535C>G
1 paper
NM_023013.4
p.C182ins1
c.544_545insGCG
1 paper
NM_023013.4
p.K184del1
c.550_552delAAG
1 paper
NM_023013.4
p.V186V
c.558C>G
1 paper
NM_023013.4
p.N187T
c.560A>C
1 paper
NM_023013.4
p.N187S
c.560A>G
1 paper
NM_023013.4
p.T190M
c.569C>T
1 paper
NM_023013.4
p.K193T
c.578A>C
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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."