Varaico: Literature-Extracted Genetic Variants

Gene:PHRF1

PHRF1

117 papers

Pfam Domains

zf-RING_2aa 102–145UCSCRing finger domain
PHDaa 182–226UCSCPHD-finger
SCAF11-like_Caa 1549–1635UCSCSCAF11-like, C-terminal domain

Gene Aliases

HGNC Name

PHD and ring finger domains 1

HGNC Previous Symbol

RNF221

Papers
RefSeq ID
Protein change
DNA change
1–12 of 136 variants
3 papers
NM_001286581.2
p.A335S
c.1003G>T
3 papers
NM_001286581.2
p.V1449A
c.4346T>C
2 papers
NM_001286581.2
p.N100S
c.299A>G
2 papers
NM_001286581.2
p.P221L
c.662C>T
2 papers
NM_001286581.2
p.A670V
c.2009C>T
2 papers
NM_001286581.2
p.R933Q
c.2798G>A
2 papers
NM_001286581.2
p.R1046Q
c.3137G>A
2 papers
NM_001286581.2
p.D1328N
c.3982G>A
2 papers
NM_001286581.2
p.D1370N
c.4108G>A
2 papers
NM_001286581.2
p.S1389A
c.4165T>G
1 paper
NM_001286581.2
p.D17E
c.51T>A
1 paper
NM_001286581.2
p.G23V
c.68G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."