Varaico: Literature-Extracted Genetic Variants

Gene:PHRF1
Variant:p.E1253K

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.E1253K
c.3757G>A
Surrounding Variants
1 paper
NM_001286581.2
p.E1253E
c.3759G>A
1 paper
NM_001286581.2
p.R1213Q
c.3638G>A
1 paper
NM_001286581.2
p.P1211T
c.3631C>A
1 paper
NM_001286581.2
p.Q1208R
c.3623A>G
1 paper
NM_001286581.2
p.S1202F
c.3605C>T
1 paper
NM_001286581.2
p.A1201V
c.3602C>T
1 paper
NM_001286581.2
p.R1188P
c.3563G>C
1 paper
NM_001286581.2
p.Q1320*
c.3958C>T
2 papers
NM_001286581.2
p.D1328N
c.3982G>A
1 paper
NM_001286581.2
p.R1171K
c.3512G>A
1 paper
NM_001286581.2
p.S1168S
c.3504G>A
1 paper
NM_001286581.2
p.E1339K
c.4015G>A
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