Varaico: Literature-Extracted Genetic Variants

Gene:SRL
Variant:p.L137L

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.L137L
c.411C>T
Surrounding Variants
1 paper
NM_001098814.2
p.V136V
c.408C>A
1 paper
NM_001098814.2
p.P129S
c.385C>T
1 paper
NM_001098814.2
p.L170I
c.508C>A
1 paper
NM_001098814.2
p.E177A
c.530A>C
1 paper
NM_001098814.2
p.P179L
c.536C>T
1 paper
NM_001098814.2
p.L182F
c.544C>T
1 paper
NM_001098814.2
p.V186A
c.557T>C
1 paper
NM_001098814.2
p.T187I
c.560C>T
1 paper
NM_001098814.2
p.G204Splc
c.610+169C>T
1 paper
NM_001098814.2
p.L114_G115insFs
c.342_343insG
1 paper
NM_001098814.2
p.G105_K106insFs
c.314_317dup4
2 papers
NM_001098814.2
p.S103N
c.308G>A
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