Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31C1
Variant:p.P419L

SPATA31C1

47 papers

Pfam Domains

DUF4599aa 83–169UCSCDomain of unknown function (DUF4599)
FAM75aa 284–606UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily C member 1

HGNC Previous Symbol

FAM75C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145124.1
p.P419L
c.1256C>T
Surrounding Variants
1 paper
NM_001145124.1
p.P434S
c.1300C>T
1 paper
NM_001145124.1
p.P450T
c.1348C>A
1 paper
NM_001145124.1
p.Q461*
c.1381C>T
1 paper
NM_001145124.1
p.P377R
c.1130C>G
1 paper
NM_001145124.1
p.I469F
c.1405A>T
1 paper
NM_001145124.1
p.G336E
c.1007G>A
1 paper
NM_001145124.1
p.T321K
c.962C>A
1 paper
NM_001145124.1
p.D312H
c.934G>C
1 paper
NM_001145124.1
p.I304V
c.910A>G
1 paper
NM_001145124.1
p.S295L
c.884C>T
1 paper
NM_001145124.1
p.L266M
c.796T>A
1 paper
NM_001145124.1
p.S254P
c.760T>C
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