Varaico: Literature-Extracted Genetic Variants

Gene:SRL
Variant:p.R398R

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.R398R
c.1194C>A
Surrounding Variants
1 paper
NM_001098814.2
p.E399K
c.1195G>A
1 paper
NM_001098814.2
p.R398C
c.1192C>T
1 paper
NM_001098814.2
p.S391N
c.1172G>A
2 papers
NM_001098814.2
p.G406delFs
c.1216delC
1 paper
NM_001098814.2
p.N389T
c.1166A>C
1 paper
NM_001098814.2
p.T388T
c.1164C>T
1 paper
NM_001098814.2
p.Y379D
c.1135T>G
1 paper
NM_001098814.2
p.S417_S421ins1
c.1251_1262dup12
1 paper
NM_001098814.2
p.V367F
c.1099G>T
1 paper
NM_001098814.2
p.L366M
c.1096C>A
2 papers
NM_001098814.2
p.Q437Q
c.1311G>A
1 paper
NM_001098814.2
p.G447A
c.1340G>C
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