Varaico: Literature-Extracted Genetic Variants

Gene:PRAM1
Variant:p.E111Q

PRAM1

92 papers

RefSeq Summary

The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal...

Pfam Domains

hSH3aa 576–665UCSCHelically-extended SH3 domain

Gene Aliases

HGNC Name

PML-RARA regulated adaptor molecule 1

HGNC Alias Symbol

PML-RAR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032152.5
p.E111Q
c.331G>C
Surrounding Variants
1 paper
NM_032152.5
p.V112F
c.334G>T
1 paper
NM_032152.5
p.P109Q
c.326C>A
1 paper
NM_032152.5
p.L115F
c.343C>T
1 paper
NM_032152.5
p.L103L
c.309C>T
1 paper
NM_032152.5
p.D102V
c.305A>T
1 paper
NM_032152.5
p.T101S
c.302C>G
1 paper
NM_032152.5
p.T101S
c.301A>T
1 paper
NM_032152.5
p.V100F
c.298G>T
1 paper
NM_032152.5
p.L122L
c.364C>T
1 paper
NM_032152.5
p.L124F
c.372G>T
1 paper
NM_032152.5
p.L124F
c.372G>C
1 paper
NM_032152.5
p.P97L
c.290C>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."