Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31E1
Variant:p.F68L

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.F68L
c.202T>C
Surrounding Variants
1 paper
NM_178828.5
p.F68L
c.204C>A
1 paper
NM_178828.5
p.F68L
c.204C>G
1 paper
NM_178828.5
p.F80Y
c.239T>A
1 paper
NM_178828.5
p.Y85Y
c.255C>T
1 paper
NM_178828.5
p.P48S
c.142C>T
1 paper
NM_178828.5
p.D89N
c.265G>A
1 paper
NM_178828.5
p.R108S
c.324A>C
1 paper
NM_178828.5
p.R108S
c.324A>T
1 paper
NM_178828.5
p.S109S
c.327C>T
1 paper
NM_178828.5
p.S112F
c.335C>T
1 paper
NM_178828.5
p.S118L
c.353C>T
1 paper
NM_178828.5
p.E141V
c.422A>T
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