Varaico: Literature-Extracted Genetic Variants

Gene:SRL
Variant:p.L236L

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
1 paper
NM_001098814.2
p.L236L
c.706C>T
Surrounding Variants
1 paper
NM_001098814.2
p.L239F
c.715C>T
1 paper
NM_001098814.2
p.T228T
c.684A>G
1 paper
NM_001098814.2
p.G245E
c.734G>A
1 paper
NM_001098814.2
p.E247K
c.739G>A
1 paper
NM_001098814.2
p.I221_F222insFs
c.663_664ins4
1 paper
NM_001098814.2
p.L220P
c.659T>C
1 paper
NM_001098814.2
p.N255del1
c.763_765delGTT
1 paper
NM_001098814.2
p.D209E
c.627C>G
2 papers
NM_001098814.2
p.Y205C
c.614A>G
1 paper
NM_001098814.2
p.G270R
c.808G>A
1 paper
NM_001098814.2
p.L272F
c.814C>T
1 paper
NM_001098814.2
p.S275_L276insFs
c.825_826insA
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