Varaico: Literature-Extracted Genetic Variants

Gene:RFPL1

RFPL1

27 papers

Pfam Domains

zf-C3HC4_4aa 40–81UCSCzinc finger of C3HC4-type, RING
RDMaa 83–124UCSCRFPL defining motif (RDM)
PRYaa 127–175UCSCSPRY-associated domain
SPRYaa 179–298UCSCSPRY domain

Gene Aliases

HGNC Name

ret finger protein like 1

HGNC Alias Symbol

RNF78

Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
5 papers
NM_021026.2
p.F137_L138del1
c.410_412delTCC
3 papers
NM_021026.2
p.Y46delFs
c.137_138delAT
3 papers
NM_021026.2
p.M127T
c.380T>C
3 papers
NM_021026.2
p.F137_L138del2
c.409_413del6
3 papers
NM_021026.2
p.Q243*
c.727C>T
2 papers
NM_021026.2
p.S224G
c.670A>G
2 papers
NM_021026.2
p.T230T
c.690G>C
1 paper
NM_021026.2
p.A58V
c.173C>T
1 paper
NM_021026.2
p.N65D
c.193A>G
1 paper
NM_021026.2
p.L77I
c.229C>A
1 paper
NM_021026.2
p.K109R
c.326A>G
1 paper
NM_021026.2
p.T128I
c.383C>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."