Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31E1
Variant:p.R786L

SPATA31E1

83 papers

Pfam Domains

DUF4599aa 110–197UCSCDomain of unknown function (DUF4599)
FAM75aa 420–789UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily E member 1

HGNC Previous Symbols

C9orf79; FAM75E1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178828.5
p.R786L
c.2357G>T
Surrounding Variants
1 paper
NM_178828.5
p.R787H
c.2360G>A
1 paper
NM_178828.5
p.A792V
c.2375C>T
1 paper
NM_178828.5
p.S810S
c.2430C>T
1 paper
NM_178828.5
p.H760Q
c.2280T>A
1 paper
NM_178828.5
p.H760Q
c.2280T>G
1 paper
NM_178828.5
p.A816T
c.2446G>A
1 paper
NM_178828.5
p.R741W
c.2221C>T
1 paper
NM_178828.5
p.I834M
c.2502A>G
1 paper
NM_178828.5
p.A736V
c.2207C>T
2 papers
NM_178828.5
p.V860I
c.2578G>A
1 paper
NM_178828.5
p.Q866H
c.2598G>T
1 paper
NM_178828.5
p.G700R
c.2098G>A
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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."