Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31D1
Variant:p.E1347Q

SPATA31D1

98 papers

Pfam Domains

DUF4599aa 66–164UCSCDomain of unknown function (DUF4599)
FAM75aa 484–854UCSCFAM75 family

Gene Aliases

HGNC Name

SPATA31 subfamily D member 1

HGNC Previous Symbol

FAM75D1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001670.3
p.E1347Q
c.4039G>C
Surrounding Variants
1 paper
NM_001001670.3
p.Q1343H
c.4029G>C
1 paper
NM_001001670.3
p.Q1343H
c.4029G>T
1 paper
NM_001001670.3
p.E1369K
c.4105G>A
1 paper
NM_001001670.3
p.L1321I
c.3961C>A
1 paper
NM_001001670.3
p.K1319N
c.3957G>C
1 paper
NM_001001670.3
p.K1319N
c.3957G>T
1 paper
NM_001001670.3
p.E1376K
c.4126G>A
1 paper
NM_001001670.3
p.S1379G
c.4135A>G
1 paper
NM_001001670.3
p.S1379N
c.4136G>A
1 paper
NM_001001670.3
p.D1408E
c.4224C>A
1 paper
NM_001001670.3
p.D1408E
c.4224C>G
1 paper
NM_001001670.3
p.K1281T
c.3842A>C
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