Varaico: Literature-Extracted Genetic Variants

Gene:PHRF1
Variant:p.D58H

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
Selected Variant
1 paper
NM_001286581.2
p.D58H
c.172G>C
Surrounding Variants
1 paper
NM_001286581.2
p.A61V
c.182C>T
1 paper
NM_001286581.2
p.D44D
c.132C>T
1 paper
NM_001286581.2
p.E32Splc
c.95-1G>A
1 paper
NM_001286581.2
p.G29S
c.85G>A
1 paper
NM_001286581.2
p.A25V
c.74C>T
1 paper
NM_001286581.2
p.G23V
c.68G>T
1 paper
NM_001286581.2
p.D17E
c.51T>A
1 paper
NM_001286581.2
p.G91W
c.271G>T
2 papers
NM_001286581.2
p.N100S
c.299A>G
1 paper
NM_001286581.2
p.D104V
c.311A>T
1 paper
NM_001286581.2
p.P109T
c.325C>A
1 paper
NM_001286581.2
p.I110V
c.328A>G
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