Varaico: Literature-Extracted Genetic Variants

Gene:PHRF1
Variant:p.S991S

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.S991S
c.2973C>G
Surrounding Variants
1 paper
NM_001286581.2
p.S993S
c.2979C>G
1 paper
NM_001286581.2
p.G1020delFs
c.3059_3060delGG
1 paper
NM_001286581.2
p.G1020del1
c.3058_3059delGGG
1 paper
NM_001286581.2
p.E944G
c.2831A>G
1 paper
NM_001286581.2
p.P938P
c.2814A>G
2 papers
NM_001286581.2
p.R1046Q
c.3137G>A
1 paper
NM_001286581.2
p.S936P
c.2806T>C
1 paper
NM_001286581.2
p.P937insFs
c.2810_2811insC
1 paper
NM_001286581.2
p.S936delFs
c.2807delC
1 paper
NM_001286581.2
p.P935insFs
c.2803_2804insC
1 paper
NM_001286581.2
p.R934delFs
c.2801delG
2 papers
NM_001286581.2
p.R933Q
c.2798G>A
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