Varaico: Literature-Extracted Genetic Variants

Gene:ESF1
Variant:p.P443L

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.P443L
c.1328C>T
Surrounding Variants
1 paper
NM_001276380.2
p.T418M
c.1253C>T
1 paper
NM_001276380.2
p.T418_S419insA
c.1252_1256ins3
1 paper
NM_001276380.2
p.A412V
c.1235C>T
1 paper
NM_001276380.2
p.E404K
c.1210G>A
1 paper
NM_001276380.2
p.V483A
c.1448T>C
1 paper
NM_001276380.2
p.A500G
c.1499C>G
1 paper
NM_001276380.2
p.G377D
c.1130G>A
1 paper
NM_001276380.2
p.A351G
c.1052C>G
2 papers
NM_001276380.2
p.D339Y
c.1015G>T
1 paper
NM_001276380.2
p.W333C
c.999G>T
1 paper
NM_001276380.2
p.W333C
c.999G>C
1 paper
NM_001276380.2
p.L322F
c.966G>T
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