Varaico: Literature-Extracted Genetic Variants

Gene:ESF1
Variant:p.M743L

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.M743L
c.2227A>T
Surrounding Variants
1 paper
NM_001276380.2
p.M743L
c.2227A>C
1 paper
NM_001276380.2
p.D751G
c.2252A>G
1 paper
NM_001276380.2
p.N724D
c.2170A>G
1 paper
NM_001276380.2
p.D716insFs
c.2147_2148insTG
1 paper
NM_001276380.2
p.D716ins2
c.2147_2148ins6
1 paper
NM_001276380.2
p.M708I
c.2124G>T
1 paper
NM_001276380.2
p.M708I
c.2124G>C
1 paper
NM_001276380.2
p.M708I
c.2124G>A
1 paper
NM_001276380.2
p.E787G
c.2360A>G
1 paper
NM_001276380.2
p.K793R
c.2378A>G
2 papers
NM_001276380.2
p.R799Q
c.2396G>A
1 paper
NM_001276380.2
p.K817R
c.2450A>G
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