Varaico: Literature-Extracted Genetic Variants

Gene:PHRF1
Variant:p.A1599_V1600del2

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.A1599_V1600del2
c.4795_4799del6
Surrounding Variants
1 paper
NM_001286581.2
p.A1599_V1600del1
c.4796_4798delCCG
1 paper
NM_001286581.2
p.P1546L
c.4637C>T
1 paper
NM_001286581.2
p.A1622T
c.4864G>A
1 paper
NM_001286581.2
p.A1638T
c.4912G>A
1 paper
NM_001286581.2
p.P1470L
c.4409C>T
1 paper
NM_001286581.2
p.T1468I
c.4403C>T
3 papers
NM_001286581.2
p.V1449A
c.4346T>C
NM_001286582.2
p.V1447A
c.4340T>C
1 paper
NM_001286581.2
p.V1446A
c.4337T>C
1 paper
NM_001286581.2
p.E1433K
c.4297G>A
1 paper
NM_001286581.2
p.P1431L
c.4292C>T
1 paper
NM_001286581.2
p.W1405*
c.4215G>A
1 paper
NM_001286581.2
p.W1405*
c.4214G>A
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