Varaico: Literature-Extracted Genetic Variants

Gene:PRAM1
Variant:p.V76_D78delFs

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
2 papers
NM_032152.5
p.V76_D78delFs
c.226_233del8
Surrounding Variants
1 paper
NM_032152.5
p.P80fs
c.238_239fs
1 paper
NM_032152.5
p.V76fs
c.226_227fs
1 paper
NM_032152.5
p.K81Q
c.241A>C
2 papers
NM_032152.5
p.V76F
c.226G>T
1 paper
NM_032152.5
p.E75*
c.223G>T
2 papers
NM_032152.5
p.E75Q
c.223G>C
2 papers
NM_032152.5
p.P73Q
c.218C>A
1 paper
NM_032152.5
p.P85P
c.255G>A
2 papers
NM_032152.5
p.P80_E87delFs
c.238_259del22
2 papers
NM_032152.5
p.V88F
c.262G>T
1 paper
NM_032152.5
p.T89S
c.265A>T
1 paper
NM_032152.5
p.T89S
c.266C>G
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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."