Varaico: Literature-Extracted Genetic Variants

Gene:ESF1
Variant:p.D106N

ESF1

59 papers

Pfam Domains

RRM_ESF1aa 347–485UCSCESF1 RRM domain
NUC153aa 759–787UCSCNUC153 domain

Gene Aliases

HGNC Name

ESF1 nucleolar pre-rRNA processing protein

HGNC Previous Symbol

C20orf6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001276380.2
p.D106N
c.316G>A
Surrounding Variants
1 paper
NM_001276380.2
p.I94R
c.281T>G
1 paper
NM_001276380.2
p.G124R
c.370G>C
1 paper
NM_001276380.2
p.D85N
c.253G>A
1 paper
NM_001276380.2
p.T129A
c.385A>G
1 paper
NM_001276380.2
p.D73N
c.217G>A
1 paper
NM_001276380.2
p.M140insFs
c.418_419insA
1 paper
NM_001276380.2
p.M140fs
c.418_419fs
1 paper
NM_001276380.2
p.S143L
c.428C>T
1 paper
NM_001276380.2
p.P154S
c.460C>T
1 paper
NM_001276380.2
p.A52A
c.156C>T
1 paper
NM_001276380.2
p.E160Q
c.478G>C
1 paper
NM_001276380.2
p.L49F
c.147G>T
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