Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31E1
Variant:p.T335P

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
3 papers
NM_178828.5
p.T335P
c.1003A>C
Surrounding Variants
1 paper
NM_178828.5
p.S339F
c.1016C>T
1 paper
NM_178828.5
p.R329W
c.985C>T
1 paper
NM_178828.5
p.S322L
c.965C>T
1 paper
NM_178828.5
p.G317A
c.950G>C
1 paper
NM_178828.5
p.A313V
c.938C>T
1 paper
NM_178828.5
p.D301N
c.901G>A
1 paper
NM_178828.5
p.A373E
c.1118C>A
1 paper
NM_178828.5
p.M377V
c.1129A>G
1 paper
NM_178828.5
p.V292A
c.875T>C
1 paper
NM_178828.5
p.R383delFs
c.1149delA
1 paper
NM_178828.5
p.K384fs
c.1150_1151fs
1 paper
NM_178828.5
p.S279Y
c.836C>A
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