Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31D1
Variant:p.P550S

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.P550S
c.1648C>T
Surrounding Variants
1 paper
NM_001001670.3
p.P560Q
c.1679C>A
1 paper
NM_001001670.3
p.L520P
c.1559T>C
1 paper
NM_001001670.3
p.L581P
c.1742T>C
1 paper
NM_001001670.3
p.Q585E
c.1753C>G
1 paper
NM_001001670.3
p.V501A
c.1502T>C
1 paper
NM_001001670.3
p.F492C
c.1475T>G
1 paper
NM_001001670.3
p.R614W
c.1840C>T
1 paper
NM_001001670.3
p.R614Q
c.1841G>A
1 paper
NM_001001670.3
p.S615C
c.1844C>G
1 paper
NM_001001670.3
p.Q480H
c.1440G>T
1 paper
NM_001001670.3
p.W471fs
c.1411_1412fs
1 paper
NM_001001670.3
p.W471_K474delFs
c.1412_1421del10
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