Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31E1

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
1–12 of 105 variants
4 papers
NM_178828.5
p.D682E
c.2046C>A
4 papers
NM_178828.5
p.D682E
c.2046C>G
3 papers
NM_178828.5
p.T335P
c.1003A>C
2 papers
NM_178828.5
p.V860I
c.2578G>A
2 papers
NM_178828.5
p.A1016P
c.3046G>C
2 papers
NM_178828.5
p.V1019E
c.3056T>A
2 papers
NM_178828.5
p.D1202G
c.3605A>G
2 papers
NM_178828.5
p.R1368C
c.4102C>T
2 papers
NM_178828.5
p.P1409R
c.4226C>G
1 paper
NM_178828.5
p.P48S
c.142C>T
1 paper
NM_178828.5
p.F68L
c.202T>C
1 paper
NM_178828.5
p.F68L
c.204C>A
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