Varaico: Literature-Extracted Genetic Variants

Gene:ESF1
Variant:p.I824L

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.I824L
c.2470A>C
Surrounding Variants
1 paper
NM_001276380.2
p.L828F
c.2484G>T
1 paper
NM_001276380.2
p.L828F
c.2484G>C
1 paper
NM_001276380.2
p.K817R
c.2450A>G
1 paper
NM_001276380.2
p.E840fs
c.2518_2519fs
1 paper
NM_001276380.2
p.R845K
c.2534G>A
1 paper
NM_001276380.2
p.Q848K
c.2542C>A
2 papers
NM_001276380.2
p.R799Q
c.2396G>A
1 paper
NM_001276380.2
p.K849del1
c.2545_2546delTTT
1 paper
NM_001276380.2
p.K793R
c.2378A>G
1 paper
NM_001276380.2
p.E787G
c.2360A>G
1 paper
NM_001276380.2
p.D751G
c.2252A>G
1 paper
NM_001276380.2
p.M743L
c.2227A>T
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