Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31D1
Variant:p.N445K

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.N445K
c.1335C>A
Surrounding Variants
1 paper
NM_001001670.3
p.N445K
c.1335C>G
1 paper
NM_001001670.3
p.A465S
c.1393G>T
1 paper
NM_001001670.3
p.P469S
c.1405C>T
1 paper
NM_001001670.3
p.R422fs
c.1264_1265fs
1 paper
NM_001001670.3
p.P469L
c.1406C>T
1 paper
NM_001001670.3
p.W471fs
c.1411_1412fs
1 paper
NM_001001670.3
p.W471_K474delFs
c.1412_1421del10
1 paper
NM_001001670.3
p.Q480H
c.1440G>T
1 paper
NM_001001670.3
p.S405*
c.1214C>A
1 paper
NM_001001670.3
p.S405*
c.1214C>G
1 paper
NM_001001670.3
p.F492C
c.1475T>G
1 paper
NM_001001670.3
p.H393L
c.1178A>T
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