Varaico: Literature-Extracted Genetic Variants

Gene:PHRF1
Variant:p.S418delFs

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.S418delFs
c.1254delT
Surrounding Variants
1 paper
NM_001286581.2
p.A424A
c.1272G>A
1 paper
NM_001286581.2
p.S430C
c.1289C>G
1 paper
NM_001286581.2
p.G398delFs
c.1194delC
1 paper
NM_020901.4
p.P452L
c.1355C>T
1 paper
NM_001286581.2
p.P478L
c.1433C>T
1 paper
NM_001286581.2
p.S480F
c.1439C>T
1 paper
NM_001286581.2
p.A490T
c.1468G>A
1 paper
NM_001286581.2
p.G512S
c.1534G>A
1 paper
NM_001286581.2
p.A533_K534delFs
c.1599_1600delCA
1 paper
NM_001286581.2
p.A537Splc
c.1609+72C>A
1 paper
NM_001286581.2
p.F555I
c.1663T>A
1 paper
NM_001286581.2
p.S574T
c.1720T>A
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