Varaico: Literature-Extracted Genetic Variants

Gene:PHRF1
Variant:p.W1405*

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.W1405*
c.4214G>A
Surrounding Variants
1 paper
NM_001286581.2
p.W1405*
c.4215G>A
2 papers
NM_001286581.2
p.S1389A
c.4165T>G
1 paper
NM_001286581.2
p.A1374V
c.4121C>T
1 paper
NM_001286581.2
p.P1372L
c.4115C>T
2 papers
NM_001286581.2
p.D1370N
c.4108G>A
1 paper
NM_001286581.2
p.S1360delFs
c.4079delC
1 paper
NM_001286581.2
p.E1339K
c.4015G>A
2 papers
NM_001286581.2
p.D1328N
c.3982G>A
1 paper
NM_001286581.2
p.Q1320*
c.3958C>T
1 paper
NM_001286581.2
p.E1253E
c.3759G>A
1 paper
NM_001286581.2
p.E1253K
c.3757G>A
1 paper
NM_001286581.2
p.P1431L
c.4292C>T
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