Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31E1
Variant:p.P1409R

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
2 papers
NM_178828.5
p.P1409R
c.4226C>G
Surrounding Variants
1 paper
NM_178828.5
p.A1413D
c.4238C>A
1 paper
NM_178828.5
p.A1413V
c.4238C>T
1 paper
NM_178828.5
p.P1415T
c.4243C>A
1 paper
NM_178828.5
p.S1438Y
c.4313C>A
1 paper
NM_178828.5
p.Q1440delFs
c.4318_4319delCA
1 paper
NM_178828.5
p.Q1440fs
c.4318_4319fs
1 paper
NM_178828.5
p.R1373S
c.4119A>C
1 paper
NM_178828.5
p.R1373S
c.4119A>T
2 papers
NM_178828.5
p.R1368C
c.4102C>T
1 paper
NM_178828.5
p.P1339L
c.4016C>T
1 paper
NM_178828.5
p.V1323A
c.3968T>C
1 paper
NM_178828.5
p.A1316D
c.3947C>A
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