Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31F1
Variant:p.L600S

SPATA31F1

79 papers

Pfam Domains

DUF4599aa 52–138UCSCDomain of unknown function (DUF4599)
FAM75aa 417–475UCSCFAM75 family
FAM75aa 451–641UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily F member 1

HGNC Previous Symbol

FAM205A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001141917.2
p.L600S
c.1799T>C
Surrounding Variants
2 papers
NM_001141917.2
p.R602H
c.1805G>A
1 paper
NM_001141917.2
p.S614F
c.1841C>T
1 paper
NM_001141917.2
p.D623D
c.1869T>C
1 paper
NM_001141917.2
p.V627L
c.1879G>T
1 paper
NM_001141917.2
p.V627L
c.1879G>C
2 papers
NM_001141917.2
p.T565T
c.1695G>A
1 paper
NM_001141917.2
p.D681N
c.2041G>A
1 paper
NM_001141917.2
p.A694S
c.2080G>T
5 papers
NM_001141917.2
p.M499V
c.1495A>G
1 paper
NM_001141917.2
p.P496S
c.1486C>T
1 paper
NM_001141917.2
p.S495S
c.1485C>G
5 papers
NM_001141917.2
p.E723V
c.2168A>T
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