Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31D1
Variant:p.H63Q

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.H63Q
c.189T>G
Surrounding Variants
1 paper
NM_001001670.3
p.H63Q
c.189T>A
1 paper
NM_001001670.3
p.N58I
c.173A>T
1 paper
NM_001001670.3
p.E55K
c.163G>A
1 paper
NM_001001670.3
p.F43L
c.129C>A
1 paper
NM_001001670.3
p.F43L
c.129C>G
1 paper
NM_001001670.3
p.F43L
c.127T>C
1 paper
NM_001001670.3
p.D19V
c.56A>T
1 paper
NM_001001670.3
p.T14S
c.40A>T
1 paper
NM_001001670.3
p.P110P
c.330T>C
1 paper
NM_001001670.3
p.R111Q
c.332G>A
1 paper
NM_001001670.3
p.R111L
c.332G>T
1 paper
NM_001001670.3
p.G112V
c.335G>T
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