Varaico: Literature-Extracted Genetic Variants

Gene:SRL

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
1–12 of 87 variants
3 papers
NM_001098814.2
p.L4L
c.12G>C
3 papers
NM_001098814.2
p.L4L
c.12G>A
2 papers
NM_001098814.2
p.V5L
c.13G>C
2 papers
NM_001098814.2
p.S103N
c.308G>A
2 papers
NM_001098814.2
p.Y205C
c.614A>G
2 papers
NM_001098814.2
p.E284delFs
c.850delC
2 papers
NM_001098814.2
p.S292insFs
c.874_875insG
2 papers
NM_001098814.2
p.D348_R349insFs
c.1044_1045insC
2 papers
NM_001098814.2
p.G406delFs
c.1216delC
2 papers
NM_001098814.2
p.Q437Q
c.1311G>A
1 paper
NM_001098814.2
p.M1T
c.2T>C
1 paper
NM_001098814.2
p.R2T
c.5G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."