Varaico: Literature-Extracted Genetic Variants

Gene:PRAM1
Variant:p.K57Q

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
4 papers
NM_032152.5
p.K57Q
c.169A>C
Surrounding Variants
1 paper
NM_032152.5
p.P56_K57ins12
c.168_169ins36
1 paper
NM_032152.5
p.K46E
c.136A>G
2 papers
NM_032152.5
p.P73Q
c.218C>A
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.V76F
c.226G>T
1 paper
NM_032152.5
p.V76fs
c.226_227fs
2 papers
NM_032152.5
p.V76_D78delFs
c.226_233del8
1 paper
NM_032152.5
p.P80fs
c.238_239fs
1 paper
NM_032152.5
p.K81Q
c.241A>C
1 paper
NM_032152.5
p.P85P
c.255G>A
2 papers
NM_032152.5
p.P80_E87delFs
c.238_259del22
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