Varaico: Literature-Extracted Genetic Variants

Gene:SRL
Variant:p.E284delFs

SRL

127 papers

Pfam Domains

EHD_Naa 59–91UCSCN-terminal EH-domain containing protein
Dynamin_Naa 96–257UCSCDynamin family

Gene Aliases

HGNC Name

sarcalumenin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001098814.2
p.E284delFs
c.850delC
Surrounding Variants
2 papers
NM_001098814.2
p.S292insFs
c.874_875insG
1 paper
NM_001098814.2
p.L276F
c.828G>T
1 paper
NM_001098814.2
p.L276F
c.828G>C
1 paper
NM_001098814.2
p.Y269_S275ins2
c.805_825dup21
1 paper
NM_001098814.2
p.S275_L276insFs
c.825_826insA
1 paper
NM_001098814.2
p.L272F
c.814C>T
1 paper
NM_001098814.2
p.G270R
c.808G>A
1 paper
NM_001098814.2
p.Q304*
c.910C>T
1 paper
NM_001098814.2
p.N255del1
c.763_765delGTT
1 paper
NM_001098814.2
p.E247K
c.739G>A
1 paper
NM_001098814.2
p.G245E
c.734G>A
1 paper
NM_001098814.2
p.L239F
c.715C>T
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