Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31D1
Variant:p.L1259F

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
4 papers
NM_001001670.3
p.L1259F
c.3777G>C
Surrounding Variants
4 papers
NM_001001670.3
p.L1259F
c.3777G>T
1 paper
NM_001001670.3
p.R1265C
c.3793C>T
1 paper
NM_001001670.3
p.A1267V
c.3800C>T
1 paper
NM_001001670.3
p.P1272L
c.3815C>T
1 paper
NM_001001670.3
p.K1281T
c.3842A>C
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.L1321I
c.3961C>A
1 paper
NM_001001670.3
p.R1188R
c.3562A>C
1 paper
NM_001001670.3
p.A1176S
c.3526G>T
1 paper
NM_001001670.3
p.Q1343H
c.4029G>C
1 paper
NM_001001670.3
p.Q1343H
c.4029G>T
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