Varaico: Literature-Extracted Genetic Variants

Gene:ESF1
Variant:p.K573del1

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
2 papers
NM_001276380.2
p.K573del1
c.1717_1718delCTT
Surrounding Variants
1 paper
NM_001276380.2
p.K569_K570del2
c.1705_1709del6
1 paper
NM_001276380.2
p.K569_K570delFs
c.1707_1710del4
1 paper
NM_001276380.2
p.G559E
c.1676G>A
1 paper
NM_001276380.2
p.E551D
c.1653A>T
1 paper
NM_001276380.2
p.E551D
c.1653A>C
3 papers
NM_001276380.2
p.I550T
c.1649T>C
1 paper
NM_001276380.2
p.S542A
c.1624T>G
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